^{If you are interested in an updated catalogue of mtDNA rearrangements from diverse species please visit the MitoBreak database}

Supplementary data

“Mitochondrial DNA rearrangements in health and disease - a comprehensive study”

Joana Damas, David C Samuels, João Carneiro, António Amorim and Filipe Pereira. 2013. Accepted.
DOI: 10.1002/humu.22452

• Deletions ↓ Main table | Breakpoints | Junctions | Missing sites | References
• Duplications ↓ Main table | Breakpoints | Junctions | Duplicated sites | References

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Removes replication origin Deletion in major/minor arcs 1-Single mtDNA deletions 2-Multiple mtDNA deletions 3-Healthy tissues 4-Parkinson Disease 5-Inclusion Body Myositis 6-Tumour 7-Other clinical features Detection methods Restriction enzymes Number of publications All

5' breakpoint	3' breakpoint	Deletion length - bp	Removes replication origin	Deletion in major/minor arcs	1-Single mtDNA deletions	2-Multiple mtDNA deletions	3-Healthy tissues	4-Parkinson Disease	5-Inclusion Body Myositis	6-Tumour	7-Other clinical features	Detection methods	Restriction enzymes	Number of publications	References
5' breakpoint	3' breakpoint	Deletion length - bp	Removes replication origin	Deletion in major/minor arcs	1-Single mtDNA deletions	2-Multiple mtDNA deletions	3-Healthy tissues	4-Parkinson Disease	5-Inclusion Body Myositis	6-Tumour	7-Other clinical features	Detection methods	Restriction enzymes	Number of publications	References
105	112	6	None	Inside major arc			Normal tissues (polymorphism)					PCR; RFLP; Sequencing	HaeIII; AluI; BsiHKAI; HaeII; MspI; HincII	5	[53-57]
306	357	50	None	Inside major arc			Controls			Hepatocellular carcinoma		PCR; Sequencing	None	2	[5; 35]
463	12080	11616	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
478	5160	4681	None	Inside minor arc	KSS							Southern blot; PCR; Sequencing	PvuII; BamHI; SnaBI	2	[58; 265]
488	8643	8154	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
493	14242	13748	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
504	5443	4938	None	Inside minor arc							Mitochondrial encephalomyopathy	No information	No information	2	[47; 265]
544	13768	13223	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
547	4443	3895	None	Inside minor arc	KSS; PEO	ad/ar-PEO	Aged tissues; Skin (epithelial swab); Controls			Non-melanoma skin cancer	PEO-like HIV patients; Chronic fatigue syndrome; Isolated mitochondrial myopathy	PCR; Southern blot; Sequencing; In situ hybridization	PvuII; HindIII; PstI; XbaI; SacI; AvaII; EcoRI	11	[14; 41; 138; 168-174; 265]
585	4443	3857	None	Inside minor arc			Aged tissues					PCR-denaturing gradient gel electrophoresis; PCR	None	1	[17]
633	16262	15628	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
708	13767	13058	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
898	16116	15217	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
1417	15219	13801	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
1491	5206	3714	None	Inside minor arc			Aged tissues					PCR; Sequencing	None	1	[14]
1491	5323	3831	None	Inside minor arc			Aged tissues					PCR; Sequencing	None	1	[14]
1672	16071	14398	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
1691	13925	12233	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
1741	14502	12760	OL	With part of minor and major arcs					Polymyositis			PCR; Sequencing	None	1	[4]
1753	13101	11347	OL	With part of minor and major arcs					Inclusion body myositis			PCR; Sequencing	None	1	[4]
1771	16072	14300	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
1840	5451	3610	None	Inside minor arc			Aged tissues					No information	No information	1	[59]
1906	16072	14165	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	2	[23; 25]
1907	16079	14171	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	2	[23; 25]
1989	14366	12376	OL	With part of minor and major arcs			Aged tissues					PCR; Sequencing	None	1	[39]
2059	16071	14011	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
2068	16074	14005	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
2333	16075	13741	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
2333	16078	13744	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
2334	16073	13738	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	2	[23; 25]
2540	16047	13506	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
2781	16071	13289	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
2818	16078	13259	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
3173	14161	10987	OL	With part of minor and major arcs							Encephalomyopathy	Southern blot; PCR; Sequencing	BamHI; PvuII	2	[129; 265]
3212	16071	12858	OL	With part of minor and major arcs			Aged tissues (Cardiomyocytes)					PCR	BstNI; AvaI; DraI; BclI	1	[28]
3233	3237	3	None	Inside minor arc			Aged tissues					PCR-denaturing gradient gel electrophoresis; PCR	None	1	[17]
3255	16070	12814	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	2	[23; 25]
3256	16072	12815	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
3263	16073	12809	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
3263	16070	12806	OL	With part of minor and major arcs			Sublimons; Aged tissues					PCR; Cloning; Sequencing; Southern blot	KpnI; XbaI; BamHI	2	[6; 23]
3263	16072	12808	OL	With part of minor and major arcs			Sublimons; Aged tissues					PCR; Cloning; Sequencing; Southern blot	KpnI; XbaI; BamHI	2	[6; 23]
3263	16071	12807	OL	With part of minor and major arcs			Aged tissues					PCR; Sequencing	KpnI; XbaI	2	[6; 9]
3263	15123	11859	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
3270	16034	12763	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
3272	16034	12761	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
3272	15068	11795	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
3311	15741	12429	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
3326	3591	264	None	Inside minor arc						Renal cell carcinoma; Solid tumors		Southern blot; PCR; Sequencing	BamHI	2	[156; 157]
3326	13923	10596	OL	With part of minor and major arcs					Inclusion body myositis			PCR; Sequencing	None	1	[4]
3393	16072	12678	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
3418	3432	13	None	Inside minor arc						Solid tumors		No information	No information	1	[157]
3432	16071	12638	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
3486	16068	12581	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	2	[23; 25]
3549	15440	11890	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
3549	16072	12522	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
3571	15540	11968	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
3575	15968	12392	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
3591	11519	7927	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
3614	12987	9372	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
3692	16068	12375	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	2	[23; 25]
3742	16074	12331	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
3826	16071	12244	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
3963	11432	7468	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
4069	14306	10236	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
4141	16073	11931	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
4351	16071	11719	OL	With part of minor and major arcs			Aged tissues					PCR; Sequencing	None	1	[290]
4376	16078	11701	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
4398	14822	10423	OL	With part of minor and major arcs							Diabetes mellitus and deafness	Southern blot; PCR; Sequencing	XhoI; PvuII; HindIII; ApaI; BamHI; SnaBI	3	[132-134]
4458	16074	11615	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
4469	13923	9453	OL	With part of minor and major arcs		MNGIE						Southern blot; PCR; Sequencing; Cloning	PvuII; SnaBI	1	[291]
4486	16075	11588	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
4882	16068	11185	OL	With part of minor and major arcs			Aged tissues					PCR; Sequencing	None	1	[9]
5042	14552	9509	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
5173	15607	10433	OL	With part of minor and major arcs			Aged tissues					PCR; Sequencing	None	1	[290]
5195	16071	10875	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
5328	16076	10747	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	2	[23; 25]
5330	16077	10746	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	2	[23; 25]
5440	13030	7589	OL	With part of minor and major arcs			Aged tissues					PCR	KpnI; XbaI	1	[6]
5561	13405	7843	OL	With part of minor and major arcs					Inclusion body myositis			PCR; Sequencing	None	1	[24]
5671	16071	10399	OL	With part of minor and major arcs			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
5745	16073	10327	OL	With part of minor and major arcs					Inclusion body myositis			PCR; Sequencing	None	1	[24]
5772	13411	7638	None	Inside major arc					Autossomal dominant hereditary inclusion body myopathy			PCR; Sequencing	None	1	[22]
5773	13411	7637	None	Inside major arc					Autossomal dominant hereditary inclusion body myopathy			PCR; Sequencing	None	1	[22]
5781	16069	10287	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
5781	16071	10289	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
5782	13483	7700	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
5785	13923	8137	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
5785	16072	10286	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
5787	13920	8132	None	Inside major arc	KSS; PEO	ad-PEO						PCR; Sequencing; Southern Blot	BamHI; HindIII; EcoRI; PstI; AvaII; PvuII	2	[11; 279]
5787	16072	10284	None	Inside major arc			Sublimons		Inclusion body myositis			PCR; Cloning; Sequencing; Southern blot	BamHI	2	[23; 24]
5787	16035	10247	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
5787	16071	10283	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
5787	16073	10285	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
5787	13924	8136	None	Inside major arc	KSS; PEO	ad-PEO	Aged tissues					PCR; Sequencing; Southern Blot	BamHI; HindIII; EcoRI; PstI; AvaII; PvuII	3	[9; 11; 279]
5787	15576	9788	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
5788	16071	10282	None	Inside major arc			Aged tissues					PCR-denaturing gradient gel electrophoresis; PCR	None	1	[17]
5788	13239	7450	None	Inside major arc					Autossomal dominant hereditary inclusion body myopathy			PCR; Sequencing	None	1	[22]
5788	16069	10280	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
5788	15448	9659	None	Inside major arc							Hypoparathyroidism; Mitochondrial encephalomyopathy (del+dup)	Southern blot; PCR; Sequencing	PvuII; PstI; BspEI; NdeI; AspI; SnaBI; BamHI	1	[300]
5789	16075	10285	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
5793	12767	6973	None	Inside major arc	PS							No information	No information	1	[107]
5795	13920	8124	None	Inside major arc		MNGIE						Southern blot; PCR; Sequencing; Cloning	PvuII; SnaBI	1	[291]
5798	16072	10273	None	Inside major arc		MNGIE						Southern blot; PCR; Sequencing; Cloning	PvuII; SnaBI	1	[291]
5803	16072	10268	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
5836	12662	6825	None	Inside major arc	KSS							PCR; Sequencing	None	1	[40]
5987	13537	7549	None	Inside major arc					Autossomal dominant hereditary inclusion body myopathy			PCR; Sequencing	None	1	[22]
6003	15441	9437	None	Inside major arc	KSS							Southern blot; PCR; Sequencing	PvuII	1	[26]
6019	6025	5	None	Inside major arc							Motor neuron disease	Southern blot; PCR; Fragment length polymorphism	No information	1	[60]
6023	14424	8400	None	Inside major arc	KSS							PCR; Sequencing	None	1	[118]
6062	16070	10007	None	Inside major arc		ad/ar-PEO					Ataxia	PCR; Cloning; Sequencing	None	1	[15]
6074	9179	3104	None	Inside major arc	PS							No information	No information	1	[107]
6084	13808	7723	None	Inside major arc	KSS							PCR; Sequencing	None	2	[40; 265]
6124	15893	9768	None	Inside major arc	KSS							PCR; Sequencing	None	1	[259]
6128	15434	9305	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
6172	13057	6884	None	Inside major arc			Aged tissues					PCR; Sequencing	No information	1	[32]
6173	16078	9904	None	Inside major arc			Aged tissues					PCR-denaturing gradient gel electrophoresis; PCR	None	1	[17]
6175	14162	7986	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
6189	16072	9882	None	Inside major arc		Mitochondrial myopathy (ad)						PCR; Cloning; Sequencing	None	1	[15]
6203	14258	8054	None	Inside major arc	PEO							PCR; Southern blot; Sequencing	PvuII; SnaBI; BamHI	1	[18]
6215	10976	4760	None	Inside major arc	PEO							PCR; Southern blot	PvuII	1	[10]
6226	13447	7220	None	Inside major arc	KSS							PCR; Sequencing	None	2	[118; 265]
6238	14103	7864	None	Inside major arc	KSS							PCR; Sequencing; Southern Blot	EcoRI	1	[152]
6310	15611	9300	None	Inside major arc	PEO							Southern blot	PvuII; PstI; BspEI; NdeI; AspI; SnaBI; BamHI	1	[44]
6320	11272	4951	None	Inside major arc	PEO							Southern blot	PvuII; PstI; BspEI; NdeI; AspI; SnaBI; BamHI	1	[44]
6326	13990	7663	None	Inside major arc	KSS						Mitochondrial myopathy; Multisystemic mitochondrial disorders	Southern blot; PCR; Sequencing	PvuII; HindIII; BamHI; EcoRI; SnaBI	2	[136; 137]
6326	16071	9744	None	Inside major arc		Mitochondrial myopathy (ad)						PCR; Cloning; Sequencing	None	1	[15]
6329	13994	7664	None	Inside major arc	KSS; PS; PEO		Aged tissues				Reye-like; MELAS; LS	Southern blot; PCR; Sequencing	PvuII	6	[9; 26; 32; 45; 119; 265]
6331	13994	7662	None	Inside major arc	KSS						Multisystemic mitochondrial disorders (single del)	Southern blot; PCR	HindIII	1	[3]
6341	14005	7663	None	Inside major arc	KSS	MNGIE; ad-PEO					Ptosis; Proximal limb weakness	PCR; Cloning; Sequencing	None	4	[15; 40; 265; 282]
6341	13994	7652	None	Inside major arc		MNGIE						Southern blot; PCR; Sequencing; Cloning	PvuII; SnaBI	1	[291]
6380	14096	7715	None	Inside major arc	PEO							PCR; Sequencing	None	1	[40]
6416	14182	7765	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
6422	15208	8785	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
6423	14344	7920	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
6428	15270	8841	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
6429	14101	7671	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
6437	14077	7639	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
6453	14288	7834	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
6464	14874	8409	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
6466	14135	7668	None	Inside major arc	PS							Southern blot; PCR; Sequencing	PvuII; BamHI	1	[223]
6469	15586	9116	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
6476	14146	7669	None	Inside major arc			Aged tissues				Wolfram syndrome	Southern blot; PCR; Sequencing	None	3	[33; 265; 294]
6476	13777	7300	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
6504	13805	7300	None	Inside major arc			Aged tissues					PCR; Sequencing	None	2	[32; 33]
6521	16071	9549	None	Inside major arc		ad/ar-PEO					Ptosis; Ataxia; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
6527	15055	8527	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
6533	16075	9541	None	Inside major arc					Autossomal dominant hereditary inclusion body myopathy			PCR; Sequencing	None	1	[22]
6537	13838	7300	None	Inside major arc			Aged tissues	Parkinson Disease				PCR; Sequencing	None	2	[32; 33]
6551	13852	7300	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
6555	14345	7789	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
6572	12304	5731	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
6577	15154	8576	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
6585	15144	8558	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
6587	14285	7697	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
6601	16284	9682	None	Inside major arc			Controls				Profound presbycusis	PCR; Sequencing	None	1	[148]
6625	16074	9448	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
6634	9925	3290	None	Inside major arc							Toni-Debr�-Fanconi syndrome	Southern blot; PCR; Sequencing	PvuII	1	[298]
6750	16072	9321	None	Inside major arc		ad/ar-PEO					Ptosis; Ataxia; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
6753	16075	9321	None	Inside major arc		Mitochondrial myopathy (ad)						PCR; Cloning; Sequencing	None	1	[15]
6759	15865	9105	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
6790	15918	9127	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
6836	14380	7543	None	Inside major arc			Aged tissues (Cardiomyocytes)					PCR	BstNI; AvaI; DraI; BclI	1	[28]
6843	14388	7544	None	Inside major arc			Aged tissues; Aged tissues (Cardiomyocytes)					PCR	KpnI; XbaI; BstNI; AvaI; DraI; BclI	3	[6; 28; 33]
6851	14816	7964	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
6862	13061	6198	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
6919	13564	6644	None	Inside major arc			Aged tissues					PCR; Sequencing	No information	1	[32]
6927	16072	9144	None	Inside major arc		Mitochondrial myopathy (ad)						PCR; Cloning; Sequencing	None	1	[15]
6935	15447	8511	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
6940	15451	8510	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
6961	16071	9109	None	Inside major arc		Mitochondrial myopathy					Proximal limb weakness; Chronic fatigue syndrome; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
7057	16071	9013	None	Inside major arc		Mitochondrial myopathy (ad)						PCR; Cloning; Sequencing	None	1	[15]
7067	16047	8979	None	Inside major arc		ad/ar-PEO					Ataxia	PCR; Cloning; Sequencing	None	1	[15]
7098	16072	8973	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
7099	16071	8971	None	Inside major arc		ad/ar-PEO					Ptosis; Ataxia; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
7113	14693	7579	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
7115	10546	3430	None	Inside major arc	PEO							Southern blot; PCR; Sequencing	PvuII	1	[301]
7116	16073	8956	None	Inside major arc		Mitochondrial myopathy					Proximal limb weakness; Chronic fatigue syndrome; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
7122	14000	6877	None	Inside major arc		Multiple deletion Patient (POLG1mut)	Aged tissues	Parkinson Disease			PEO, Parkinson	PCR; Sequencing	None	2	[32; 33]
7125	13050	5924	None	Inside major arc			Aged tissues					PCR; Sequencing	No information	1	[32]
7127	14393	7265	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
7128	14006	6877	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
7182	14566	7383	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
7185	14120	6934	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
7188	14335	7146	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
7193	14596	7402	None	Inside major arc	KSS							Southern blot; PCR; Sequencing	PvuII; EcoRI; HindIII; HpaI; BamHI; XbaI; DraI; NcoI; BglII; PstI; AccI; HaeII	1	[19]
7201	14809	7607	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
7204	13903	6698	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
7212	14261	7048	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
7215	16072	8856	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7215	16073	8857	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7218	16071	8852	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7235	16074	8838	None	Inside major arc		Mitochondrial myopathy					Proximal limb weakness; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
7235	16072	8836	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7265	16071	8805	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7265	16035	8769	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
7267	16077	8809	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7268	16077	8808	None	Inside major arc			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
7277	12300	5022	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
7288	15900	8611	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7289	14943	7653	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7322	15239	7916	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7322	13464	6141	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
7323	15056	7732	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7323	15435	8111	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7329	14531	7201	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7331	15946	8614	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7337	14931	7593	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7338	14598	7259	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7347	14245	6897	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7350	16071	8720	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7360	15276	7915	None	Inside major arc		ad-PEO					Ptosis; Proximal limb weakness	PCR; Cloning; Sequencing	None	1	[15]
7366	14060	6693	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7367	16072	8704	None	Inside major arc		ad/ar-PEO; ad/ar-PEO(POLGmut)					Ptosis; Proximal limb weakness	PCR; Cloning; Sequencing	None	2	[15; 286]
7367	12063	4695	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
7370	16072	8701	None	Inside major arc		Mitochondrial myopathy (ad)						PCR; Cloning; Sequencing	None	1	[15]
7370	16073	8702	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7372	13239	5866	None	Inside major arc			Controls					PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7374	15957	8582	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7387	15930	8542	None	Inside major arc		ad/ar-PEO(TWINKLEdup)						PCR; Cloning; Sequencing	None	1	[286]
7396	13118	5721	None	Inside major arc							Ulcerative colitis	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7399	15405	8005	None	Inside major arc			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
7399	15383	7983	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7400	14290	6889	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7401	16074	8672	None	Inside major arc		ad/ar-PEO; ad/ar-PEO(POLGmut); Mitochondrial myopathy					Proximal limb weakness; Chronic fatigue syndrome; other neurological symptoms	PCR; Cloning; Sequencing	None	2	[15; 286]
7401	16068	8666	None	Inside major arc		ad/ar-PEO(TWINKLEdup); ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7402	16072	8669	None	Inside major arc		ad/ar-PEO; ad/ar-PEO(TWINKLEdup); ad/ar-PEO(POLGmut)					Ataxia	PCR; Cloning; Sequencing	None	2	[15; 286]
7402	15128	7725	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7402	15372	7969	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7402	16068	8665	None	Inside major arc		ad/ar-PEO(TWINKLEdup); ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7402	16071	8668	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7402	16073	8670	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7402	16076	8673	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7402	13677	6274	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
7403	16075	8671	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7403	16078	8674	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7403	12392	4988	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
7404	16080	8675	None	Inside major arc		ad/ar-PEO(TWINKLEdup); ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7406	14560	7153	None	Inside major arc		ad/ar-PEO(POLGmut)	Aged tissues					PCR; Cloning; Sequencing	None	2	[9; 286]
7407	13620	6212	None	Inside major arc	PEO							Southern blot; PCR; Sequencing	PvuII	1	[26]
7407	12396	4988	None	Inside major arc		Multiple deletion Patient (POLG1mut)	Aged tissues				PEO, Parkinson	PCR; Sequencing	None	2	[9; 33]
7409	13688	6278	None	Inside major arc			Aged tissues	Parkinson Disease				PCR; Sequencing	None	2	[14; 33]
7410	13688	6277	None	Inside major arc			Aged tissues	Parkinson Disease				PCR; Sequencing	None	1	[114]
7414	15609	8194	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
7414	14568	7153	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
7428	13415	5986	None	Inside major arc							Ulcerative colitis	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7429	14895	7465	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7431	15093	7661	None	Inside major arc		Mitochondrial myopathy (ad)						PCR; Cloning; Sequencing	None	1	[15]
7439	13477	6037	None	Inside major arc							Mitochondrial encephalomyopathy	No information	No information	1	[47]
7440	15882	8441	None	Inside major arc							Ulcerative colitis	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7443	13468	6024	None	Inside major arc							Ulcerative colitis	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7448	13451	6002	None	Inside major arc							Ulcerative colitis	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7448	13475	6026	None	Inside major arc	PEO							Southern blot	PvuII; PstI; BspEI; NdeI; AspI; SnaBI; BamHI	1	[44]
7449	15926	8476	None	Inside major arc	KSS; PEO							PCR; Sequencing; Southern Blot; Cloning	BamHI; HindIII; EcoRI; PstI; AvaII;	2	[11; 15]
7449	15167	7717	None	Inside major arc		Mitochondrial myopathy					Proximal limb weakness; Chronic fatigue syndrome; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
7450	15378	7927	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7452	12263	4810	None	Inside major arc							Ulcerative colitis	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7452	13723	6270	None	Inside major arc							Ulcerative colitis	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7453	13487	6033	None	Inside major arc			Controls					PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7453	13644	6190	None	Inside major arc			Controls					PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7453	15435	7981	None	Inside major arc							Ulcerative colitis	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7460	11847	4386	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
7461	12977	5515	None	Inside major arc							Crohn's disease	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7462	16071	8608	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7465	11426	3960	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
7469	14285	6815	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7470	16074	8603	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7471	16073	8601	None	Inside major arc		Mitochondrial myopathy						Southern blot; PCR; Sequencing	PvuII; XbaI; KpnI	1	[167]
7472	14814	7341	None	Inside major arc		Mitochondrial myopathy (ad)						PCR; Cloning; Sequencing	None	1	[15]
7477	15998	8520	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
7479	11440	3960	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
7491	11004	3512	None	Inside major arc	KSS; PEO						Complex I deficiency	PCR; Sequencing; Southern Blot	BamHI; HindIII; EcoRI; PstI; AvaII	3	[11; 154; 265]
7493	13985	6491	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7494	12763	5268	None	Inside major arc							Incomplete KSS	PCR; Sequencing	None	1	[109]
7494	16073	8578	None	Inside major arc		ad/ar-PEO(TWINKLEdup)						PCR; Cloning; Sequencing	None	1	[286]
7495	15439	7943	None	Inside major arc		Mitochondrial myopathy (ad)						PCR; Cloning; Sequencing	None	1	[15]
7506	14433	6926	None	Inside major arc	KSS		Aged tissues					PCR	KpnI; XbaI	2	[6; 40]
7508	15939	8430	None	Inside major arc	KSS		Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI; PvuII	2	[23; 26]
7517	13096	5578	None	Inside major arc							Ulcerative colitis	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7524	13395	5870	None	Inside major arc							Ulcerative colitis	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7527	16065	8537	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7529	13474	5944	None	Inside major arc							Ulcerative colitis	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7539	15913	8373	None	Inside major arc							Ulcerative colitis	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7539	15237	7697	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
7547	13475	5927	None	Inside major arc	PEO							PCR; Cloning; Sequencing	BamHI; XbaI; HindIII	1	[296]
7553	13546	5992	None	Inside major arc			Controls					PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7562	15381	7818	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7563	13724	6160	None	Inside major arc							Crohn's disease	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7623	15036	7412	None	Inside major arc		ad-PEO						Southern blot; PCR; Sequencing	PvuII	1	[279]
7626	8196	569	None	Inside major arc						Thyroid tumor		PCR	None	1	[49]
7629	16072	8442	None	Inside major arc			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
7629	14813	7183	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
7632	8206	573	None	Inside major arc						Thyroid tumor		PCR	None	1	[49]
7635	15440	7804	None	Inside major arc	KSS						Lowe syndrome	Southern blot; PCR; Sequencing	PvuII; HindIII; PstI; XbaI; EcoRI	1	[141]
7635	15310	7674	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
7638	15916	8277	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7644	16071	8426	None	Inside major arc			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
7662	15552	7889	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
7667	16072	8404	None	Inside major arc			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
7667	16071	8403	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7667	14359	6691	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
7669	15437	7767	None	Inside major arc	KSS; PEO						Evolution from PS; Sideroblastic anemia	PCR; Sequencing; Southern Blot	BamHI; HindIII; EcoRI; PstI; AvaII	3	[11; 155; 265]
7669	13810	6140	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
7669	16072	8402	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7671	16071	8399	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7677	15013	7335	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
7682	13722	6039	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
7694	14053	6358	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7695	13107	5411	None	Inside major arc							Crohn's disease	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7696	13987	6290	None	Inside major arc			Aged tissues					PCR; Sequencing	No information	1	[32]
7696	12365	4668	None	Inside major arc	KSS							Southern blot; PCR; Sequencing	None	1	[34]
7697	12364	4666	None	Inside major arc	KSS						Mitochondrial myopathy	Southern blot; PCR; Sequencing; In situ hybridization	None	2	[34; 108]
7705	15945	8239	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7719	16053	8333	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7723	14108	6384	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
7723	14110	6386	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
7728	13806	6077	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
7733	16073	8339	None	Inside major arc			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
7755	15236	7480	None	Inside major arc		Mitochondrial myopathy (ad)						PCR; Cloning; Sequencing	None	1	[15]
7756	16072	8315	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7775	16072	8296	None	Inside major arc		Mitochondrial myopathy (ad)						PCR; Cloning; Sequencing	None	1	[15]
7775	13532	5756	None	Inside major arc			Aged tissues					PCR; Cloning; Sequencing	None	1	[163]
7777	13794	6016	None	Inside major arc	PS							No information	No information	1	[117]
7779	16071	8291	None	Inside major arc		ad-PEO					Ptosis; Proximal limb weakness	PCR; Cloning; Sequencing	None	1	[15]
7792	14181	6388	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7794	12561	4766	None	Inside major arc							Hearts exposed to doxorubicin	Southern blot; PCR; Sequencing	PvuII	1	[159]
7795	15287	7491	None	Inside major arc		ad-PEO					Ptosis; Proximal limb weakness	PCR; Cloning; Sequencing	None	1	[15]
7795	16073	8277	None	Inside major arc		ad-PEO; Mitochondrial myopathy					Peripheral myopathy	Southern blot; PCR; Sequencing	PvuII; BamHI	3	[7; 284; 285]
7804	13795	5990	None	Inside major arc			Controls				Ulcerative colitis	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
7805	13844	6038	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
7808	12388	4579	None	Inside major arc			Aged tissues					PCR; Sequencing	No information	1	[32]
7811	16071	8259	None	Inside major arc			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
7813	16077	8263	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7814	14805	6990	None	Inside major arc			Aged tissues				Diffuse leukodystrophy	PCR; Sequencing	None	2	[33; 275]
7815	13581	5765	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
7817	14536	6718	None	Inside major arc							Ragged red fibers; Strokes; LS	Southern blot; PCR; Sequencing	None	1	[131]
7817	16071	8253	None	Inside major arc		ad/ar-PEO; ad/ar-PEO(POLGmut); Mitochondrial myopathy					Proximal limb weakness; other neurological symptoms	PCR; Cloning; Sequencing; Southern blot	PvuII; XbaI; KpnI	3	[15; 167; 286]
7817	16072	8254	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7817	16074	8256	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7818	16075	8256	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7818	16077	8258	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7819	16077	8257	None	Inside major arc		ad/ar-PEO	Aged tissues					PCR; Cloning; Sequencing	None	2	[14; 15]
7819	16070	8250	None	Inside major arc		ad/ar-PEO; ad/ar-PEO(POLGmut); Mitochondrial myopathy						Southern blot; PCR; Sequencing; Cloning	PvuII; XbaI; KpnI	2	[167; 286]
7820	16074	8253	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7821	16073	8251	None	Inside major arc		ad/ar-PEO; ad/ar-PEO(POLGmut); Mitochondrial myopathy; Multiple deletion patient					Ptosis; Proximal limb weakness; Chronic fatigue syndrome; Ataxia; Seizures; other neurological symptoms	PCR; Cloning; Sequencing; Southern blot	PvuII; XbaI; KpnI	4	[15; 33; 167; 286]
7821	16072	8250	None	Inside major arc		Mitochondrial myopathy					Proximal limb weakness; Chronic fatigue syndrome; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
7821	13760	5938	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
7823	15389	7565	None	Inside major arc	PEO							PCR; Sequencing	None	2	[40; 265]
7824	16077	8252	None	Inside major arc		ad/ar-PEO; ad/ar-PEO(POLGmut); Mitochondrial myopathy	Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI; PvuII; XbaI; KpnI	3	[23; 167; 286]
7828	13385	5556	None	Inside major arc	KSS							PCR; Southern blot; Sequencing	PvuII; SnaBI; BamHI	1	[18]
7829	14135	6305	None	Inside major arc							Multiple sclerosis; Ragged red fibers; Mitochondrial myopathy; COX deficiency	Southern blot; PCR; Sequencing	PvuII	1	[128]
7841	13905	6063	None	Inside major arc			Aged tissues					Southern blot; PCR	PvuII; XbaI; HindIII; BamHI; EcoRI; ApaI; NaeI	4	[120-122; 210]
7845	15761	7915	None	Inside major arc		ad-PEO						Southern blot; PCR; Sequencing	PvuII	1	[279]
7846	9749	1902	None	Inside major arc	PEO; KSS		Myoblasts					PCR; Sequencing	HaeIII	3	[40; 160; 161]
7850	13474	5623	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
7853	13887	6033	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
7857	12283	4425	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
7869	16076	8206	None	Inside major arc		Mitochondrial myopathy					Ptosis; Proximal limb weakness; Chronic fatigue syndrome; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
7869	16069	8199	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7870	16076	8205	None	Inside major arc		Mitochondrial myopathy						Southern blot; PCR; Sequencing	PvuII; XbaI; KpnI	1	[167]
7885	15698	7812	None	Inside major arc	KSS							Southern blot; PCR; Sequencing	PvuII; BamHI	1	[302]
7889	15435	7545	None	Inside major arc	PEO							Southern blot; PCR; Sequencing	PvuII	1	[140]
7899	15642	7742	None	Inside major arc		Mitochondrial myopathy	Aged tissues				Peripheral myopathy	Southern blot; PCR; Sequencing	PvuII	1	[7]
7904	16285	8380	None	Inside major arc							Chronic uremia	PCR; Sequencing	None	1	[38]
7912	9560	1647	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
7914	16070	8155	None	Inside major arc		Mitochondrial myopathy						Southern blot; PCR; Sequencing	PvuII; XbaI; KpnI	1	[167]
7915	16276	8360	None	Inside major arc							Chronic uremia	PCR; Sequencing	None	1	[38]
7919	16072	8152	None	Inside major arc		ad/ar-PEO					Ataxia	PCR; Cloning; Sequencing	None	1	[15]
7920	16078	8157	None	Inside major arc		Mitochondrial myopathy						Southern blot; PCR; Sequencing	PvuII; XbaI; KpnI	1	[167]
7921	16080	8158	None	Inside major arc		Mitochondrial myopathy						Southern blot; PCR; Sequencing	PvuII; XbaI; KpnI	2	[25; 167]
7921	16283	8361	None	Inside major arc							Chronic uremia	PCR; Sequencing	None	1	[38]
7921	16072	8150	None	Inside major arc		ad-PEO; Mitochondrial myopathy	Sublimons				Peripheral myopathy	PCR; Cloning; Sequencing; Southern blot	BamHI; PvuII; XbaI; KpnI	5	[7; 23; 167; 284; 285]
7922	16075	8152	None	Inside major arc		Mitochondrial myopathy					Proximal limb weakness; Chronic fatigue syndrome; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
7923	16075	8151	None	Inside major arc		Mitochondrial myopathy					Chronic uremia	Southern blot; PCR; Sequencing	PvuII; XbaI; KpnI	2	[38; 167]
7923	11423	3499	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
7931	15761	7829	None	Inside major arc		ad-PEO						Southern blot; PCR; Sequencing	PvuII	1	[279]
7933	15604	7670	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
7945	16073	8127	None	Inside major arc		Mitochondrial myopathy (ad)						PCR; Cloning; Sequencing	None	1	[15]
7945	16074	8128	None	Inside major arc		ad-PEO						PCR; Sequencing; Southern Blot	BamHI; PvuII	1	[176]
7949	14315	6365	None	Inside major arc	KSS							Southern blot; PCR; Sequencing	PvuII	1	[26]
7958	15927	7968	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
7959	13787	5827	None	Inside major arc			Aged tissues					PCR; Cloning; Sequencing	None	1	[163]
7961	13374	5412	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
7962	16020	8057	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
7964	12432	4467	None	Inside major arc							Hearts exposed to doxorubicin	Southern blot; PCR; Sequencing	PvuII	1	[159]
7967	11312	3344	None	Inside major arc		sideroblastic anemia/mitochondrial myopathy					Mild pancreatic insufficiency and progressive muscle weakness; Autosomal dominant inheritance	Southern blot; PCR; Sequencing	PvuII	1	[277]
7978	16072	8093	None	Inside major arc		ad/ar-PEO					Ptosis; Ataxia; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
7982	15504	7521	None	Inside major arc	KSS; PEO	Mitochondrial myopathy					MELAS; Ptosis; Proximal limb weakness; Chronic fatigue syndrome; Ataxia; Seizures; other neurological symptoms	PCR; Cloning; Sequencing; Southern blot	PvuII	5	[15; 40; 42; 43; 265]
7983	15504	7520	None	Inside major arc	KSS							Southern blot; PCR; Sequencing	PvuII; BamHI	1	[302]
7989	15435	7445	None	Inside major arc	PEO							Southern blot; PCR; Sequencing	PvuII	1	[140]
7990	16068	8077	None	Inside major arc		Mitochondrial myopathy						Southern blot; PCR; Sequencing	PvuII; XbaI; KpnI	1	[167]
7990	16078	8087	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
7991	16070	8078	None	Inside major arc		Mitochondrial myopathy						Southern blot; PCR; Sequencing	PvuII; XbaI; KpnI	1	[167]
7991	16073	8081	None	Inside major arc		Mitochondrial myopathy						Southern blot; PCR; Sequencing	PvuII; XbaI; KpnI	1	[167]
7992	15730	7737	None	Inside major arc			Aged tissues					PCR; Cloning; Sequencing	None	1	[163]
7992	16072	8079	None	Inside major arc		ad-PEO						PCR; Sequencing; Southern Blot	BamHI; PvuII	1	[176]
7995	15213	7217	None	Inside major arc		ad/ar-PEO					Ptosis; Proximal limb weakness; Chronic fatigue syndrome; Ataxia; Seizures; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
7997	15568	7570	None	Inside major arc		ad-PEO					Ptosis; Proximal limb weakness	PCR; Cloning; Sequencing	None	1	[15]
7998	12300	4301	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
8019	15519	7499	None	Inside major arc		Mitochondrial myopathy					Proximal limb weakness; Chronic fatigue syndrome; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
8030	16070	8039	None	Inside major arc		Mitochondrial myopathy						Southern blot; PCR; Sequencing	PvuII; XbaI; KpnI	1	[167]
8030	16078	8047	None	Inside major arc			Aged tissues					No information	No information	2	[25; 282]
8030	16075	8044	None	Inside major arc			Aged tissues				Chronic uremia	PCR; Cloning; Sequencing	None	2	[38; 163]
8031	16070	8038	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
8031	16077	8045	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
8031	16074	8042	None	Inside major arc		ad-PEO						PCR; Sequencing; Southern Blot	BamHI; PvuII	2	[25; 176]
8031	14564	6532	None	Inside major arc			Aged tissues					PCR; Sequencing	No information	1	[32]
8032	12300	4267	None	Inside major arc							Hearts exposed to doxorubicin	Southern blot; PCR; Sequencing	PvuII	1	[159]
8032	16073	8040	None	Inside major arc		ad-PEO; Mitochondrial myopathy	Aged tissues		Inclusion body myositis			Southern blot; PCR; Sequencing; Cloning	PvuII; XbaI; KpnI	4	[24; 167; 176; 283]
8032	16075	8042	None	Inside major arc		ad-PEO	Aged tissues		Inclusion body myositis			PCR; Sequencing	None	3	[24; 176; 289]
8032	16069	8036	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	2	[24; 25]
8032	16072	8039	None	Inside major arc		ad/ar-PEO; ad/ar-PEO(POLGmut)			Inclusion body myositis			PCR; Cloning; Sequencing	None	2	[24; 286]
8032	16071	8038	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
8033	14337	6303	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
8033	16071	8037	None	Inside major arc		ad-PEO	Aged tissues; Sublimons		Inclusion body myositis			PCR; Cloning; Sequencing; Southern blot	BamHI	4	[23-25; 176]
8033	16078	8044	None	Inside major arc							Chronic uremia	PCR; Sequencing	None	1	[38]
8034	16076	8041	None	Inside major arc		ad/ar-PEO; Mitochondrial myopathy	Sublimons; Aged tissues		Inclusion body myositis		Chronic uremia; Ptosis; Proximal limb weakness	PCR; Cloning; Sequencing; Southern blot	BamHI; PvuII; XbaI; KpnI	8	[15; 23-25; 38; 163; 167; 176]
8034	16071	8036	None	Inside major arc		ad-PEO					Ptosis; Proximal limb weakness	PCR; Cloning; Sequencing	None	1	[15]
8034	11423	3388	None	Inside major arc							Hearts exposed to doxorubicin	Southern blot; PCR; Sequencing	PvuII	1	[159]
8034	15882	7847	None	Inside major arc					Autossomal dominant hereditary inclusion body myopathy			PCR; Sequencing	None	1	[22]
8034	11434	3399	None	Inside major arc			Aged tissues	Parkinson Disease				PCR	KpnI; XbaI	2	[6; 33]
8036	13095	5058	None	Inside major arc			Aged tissues (Cardiomyocytes)					PCR	BstNI; AvaI; DraI; BclI	1	[28]
8049	14115	6065	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
8053	15444	7390	None	Inside major arc					Autossomal dominant hereditary inclusion body myopathy			PCR; Sequencing	None	1	[22]
8055	13095	5039	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
8058	12215	4156	None	Inside major arc							Hearts exposed to doxorubicin	Southern blot; PCR; Sequencing	PvuII	1	[159]
8076	15911	7834	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
8083	16071	7987	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
8093	16071	7977	None	Inside major arc			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
8095	12393	4297	None	Inside major arc							Hearts exposed to doxorubicin	Southern blot; PCR; Sequencing	PvuII	1	[159]
8113	14849	6735	None	Inside major arc							Chronic uremia	PCR; Sequencing	None	1	[38]
8134	13573	5438	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
8137	14771	6633	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
8143	15271	7127	None	Inside major arc		ad-PEO					Ptosis; Proximal limb weakness	PCR; Cloning; Sequencing	None	1	[15]
8151	15783	7631	None	Inside major arc							Chronic uremia	PCR; Sequencing	None	1	[38]
8156	16037	7880	None	Inside major arc		ad-PEO			Inclusion body myositis			PCR; Sequencing	None	2	[24; 176]
8170	16333	8162	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8175	16073	7897	None	Inside major arc							Chronic uremia	PCR; Sequencing	None	1	[38]
8176	11614	3437	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
8198	13433	5234	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8208	16070	7861	None	Inside major arc		ad-PEO						PCR; Sequencing; Southern Blot	BamHI; PvuII	1	[176]
8211	15340	7128	None	Inside major arc	PEO							In situ hybridization; PCR	None	1	[138]
8213	16070	7856	None	Inside major arc			Aged tissues					PCR; Cloning; Sequencing	None	1	[163]
8220	13998	5777	None	Inside major arc							Diabetic amyotrophy, myoatrophy and fatty liver	PCR; Sequencing	None	1	[126]
8222	13476	5253	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8231	16072	7840	None	Inside major arc		ad-PEO						PCR; Sequencing; Southern Blot	BamHI; PvuII	1	[176]
8231	16280	8048	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8232	16071	7838	None	Inside major arc		ad-PEO						PCR; Sequencing; Southern Blot	BamHI; PvuII	1	[176]
8232	15542	7309	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
8233	16067	7833	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	2	[24; 25]
8233	13383	5149	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8233	13967	5733	None	Inside major arc			Aged tissues					PCR; Sequencing	No information	1	[32]
8239	13407	5167	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8240	13341	5100	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8244	16381	8136	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8250	13410	5159	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8253	16066	7812	None	Inside major arc		Mitochondrial myopathy (ad)						PCR; Cloning; Sequencing	None	1	[15]
8254	16070	7815	None	Inside major arc		Mitochondrial myopathy						Southern blot; PCR; Sequencing	PvuII; XbaI; KpnI	1	[167]
8256	15261	7004	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
8257	16162	7904	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8259	13359	5099	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8261	15652	7390	None	Inside major arc							Chronic uremia	PCR; Sequencing	None	1	[38]
8262	10844	2581	None	Inside major arc						Solid tumors		No information	No information	1	[157]
8263	13531	5267	None	Inside major arc							Crohn's disease	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
8264	16071	7806	None	Inside major arc		Mitochondrial myopathy					Ptosis; Proximal limb weakness; Chronic fatigue syndrome; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
8268	14906	6637	None	Inside major arc							Chronic uremia	PCR; Sequencing	None	1	[38]
8271	13410	5138	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8278	13770	5491	None	Inside major arc	KSS							Southern blot; PCR; Sequencing	BamHI; EcoRI; HindIII; PstI; PvuII; ScaI	1	[274]
8280	8290	9	None	Inside major arc	KSS		Normal tissues (polymorphism)				Adrenal failure; Sensorineural hearing loss and migraine; Sensorineural hearing loss	PCR; RFLP; Sequencing; CSGE; Dideoxy fingerprinting; Southern blot; TTGE;	AluI; AvaII; DdeI; FnuDII; HaeIII; HhaI; HinfI; HpaI; HpaII; MboI; RsaI; TaqI; BamHI; HincII; MspI; NlaIII; XhoI; BsaHI; MvaI; MaeIII; Tsp45I; HaeII; PstI; PvuII; XbaI; XhoII	47	[53; 61-106]
8281	16371	8089	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8287	16072	7784	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
8289	13791	5501	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
8291	16276	7984	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8292	16034	7741	None	Inside major arc			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
8294	16074	7779	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
8295	16073	7777	None	Inside major arc		ad-PEO						PCR; Sequencing; Southern Blot	BamHI; PvuII	1	[176]
8299	13153	4853	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
8299	16071	7771	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
8304	15055	6750	None	Inside major arc	PS							No information	No information	1	[107]
8305	14619	6313	None	Inside major arc							Chronic uremia	PCR; Sequencing	None	1	[38]
8308	13382	5073	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8310	16078	7767	None	Inside major arc		ad-PEO						PCR; Sequencing; Southern Blot	BamHI; PvuII	1	[176]
8312	13667	5354	None	Inside major arc			Controls				Profound presbycusis	PCR; Sequencing	None	1	[148]
8316	15802	7485	None	Inside major arc			Aged tissues					PCR; Cloning; Sequencing	None	1	[175]
8327	13358	5030	None	Inside major arc						Thyroid tumor		PCR; Southern blot	PvuII	1	[295]
8344	15633	7288	None	Inside major arc			Aged tissues					PCR; Cloning; Sequencing	None	1	[175]
8372	12085	3712	None	Inside major arc							Hearts exposed to doxorubicin	Southern blot; PCR; Sequencing	PvuII	1	[159]
8373	16067	7693	None	Inside major arc			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
8380	13338	4957	None	Inside major arc	PEO							Southern blot; PCR; Sequencing	PvuII	1	[26]
8385	15918	7532	None	Inside major arc							Chronic uremia	PCR; Sequencing	None	1	[38]
8387	15515	7127	None	Inside major arc		Mitochondrial myopathy (ad)						PCR; Cloning; Sequencing	None	1	[15]
8387	16071	7683	None	Inside major arc							Chronic fatigue syndrome	PCR; Sequencing	None	1	[162]
8387	12821	4433	None	Inside major arc			Aged tissues					PCR; Sequencing	No information	1	[32]
8387	16067	7679	None	Inside major arc							ad-Oculopharyngeal muscular dystrophy	PCR; Sequencing	None	1	[37]
8387	16078	7690	None	Inside major arc							Chronic uremia	PCR; Sequencing	None	1	[38]
8394	16070	7675	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
8395	16071	7675	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
8395	16073	7677	None	Inside major arc		ad/ar-PEO(POLGmut)						PCR; Cloning; Sequencing	None	1	[286]
8398	16073	7674	None	Inside major arc		ad-PEO			Inclusion body myositis			PCR; Sequencing	None	2	[24; 176]
8398	16072	7673	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
8408	14118	5709	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
8412	15664	7251	None	Inside major arc	PEO							PCR; Southern blot; Sequencing	BamHI; SnaBI; BglII	1	[142]
8417	15127	6709	None	Inside major arc		ad-PEO						PCR; Sequencing; Southern Blot	BamHI; PvuII	1	[176]
8418	14127	5708	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
8420	11498	3077	None	Inside major arc	KSS							Southern blot; PCR	HindIII	1	[3]
8421	13564	5142	None	Inside major arc			Controls				Profound presbycusis	PCR; Sequencing	None	1	[148]
8421	12399	3977	None	Inside major arc			Controls					Southern blot; PCR	None	1	[2]
8426	12894	4467	None	Inside major arc	KSS							PCR; Sequencing	None	1	[40]
8428	15482	7053	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
8437	14068	5630	None	Inside major arc	PS							PCR; Sequencing; Southern Blot	PvuII; SnaBI/BgIII	1	[31]
8439	16075	7635	None	Inside major arc			Aged tissues					PCR; Cloning; Sequencing	None	2	[25; 163]
8441	14505	6063	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
8461	15603	7141	None	Inside major arc							Chronic uremia	PCR; Sequencing	None	1	[38]
8464	13138	4673	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
8467	13444	4976	None	Inside major arc	PEO							Southern blot	PvuII; PstI; BspEI; NdeI; AspI; SnaBI; BamHI	1	[44]
8468	13446	4977	None	Inside major arc	KSS; PEO				Inclusion body myositis			PCR; Sequencing; Southern Blot	BamHI; HindIII; EcoRI; PstI; AvaII; PvuII; PstI; BspEI; NdeI; AspI; SnaBI	3	[11; 24; 44]
8470	13447	4976	None	Inside major arc						Solid tumors		No information	No information	1	[157]
8475	14381	5905	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
8476	14812	6335	None	Inside major arc	KSS		Aged tissues					PCR; Southern blot; Sequencing; Cloning	PvuII; SnaBI; BamHI; PstI; BspEI; NdeI; AspI	3	[18; 44; 163]
8477	13590	5112	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[8]
8479	13594	5114	None	Inside major arc	PEO							Southern blot	PvuII; PstI; BspEI; NdeI; AspI; SnaBI; BamHI	1	[44]
8482	13460	4977	None	Inside major arc	KSS; PEO; PS	ad/ar-PEO; ad/ar-PEO(POLGmut)	Aged tissues; Unfertilized oocytes; Spermatozoa; Postmenopausal ovaries; Embryos; Cumullus cells; Controls	Parkinson Disease	Autossomal dominant hereditary inclusion body myopathy; Inclusion body myositis	Thyroid, Hepatic, Warthin's, Goiters tumors; Sporadic breast cancer and benign breast diseases	Reye-like; Alzheimer disease; Huntington's disease; Adrenal failure; Hemodialysis patients; Cyclic vomiting syndrome; Hearts exposed to doxorubicin; Pancytopenia; Microvesicular stetosis; Presbiacusis; Cerebral folate deficiency; Atrial fibrillation; Ataxia telangiectasia; Sporadic amyotrophic lateral sclerosis; Toni-Debr�-Fanconi syndrome; Chronic kidney disease; Polypodium treated patients; Ptosis, ophthalmoparesis; Facial paresis; Ophthalmoplesia; Retinopathy; Ataxia cerebellum syndrome; Myopathy; Tetraparesis; Skeletal muscle symptoms; Multiorgan involvement; Multiple deletion patient; Dilated cardiomyopathy; Chronic fatigue syndrome; Sensorineural hearing loss; MELAS; MERRF; Diabetes mellitus and deafness; Mitochondrial encephalomyopathy; Mitochondrial myopathy; COX deficiency; LS; Isolated mitochondrial myopathy	Southern blot; PCR; Sequencing; Cloning; TTGE; In situ hybridization; FISH; Real-time PCR	KpnI; XbaI; BamHI; HindIII; EcoRI; PstI; AvaII; PvuII; SnaBI; BspEI; NdeI; AspI; TaqI; ApaI; HaeII; HincII; DdeI; RsaI; HaeIII; NaeI; MseI; AluI; BstNI	128	[2; 6; 11; 18; 21; 22; 24; 25; 27; 32; 33; 40-42; 44-47; 49; 76; 107; 110; 116; 119-121; 125; 127; 138; 147; 148; 153; 154; 159; 162; 163; 168; 174-267]
8483	13448	4964	None	Inside major arc		MNGIE						Southern blot; PCR; Sequencing; Cloning	PvuII; SnaBI	1	[291]
8484	13448	4963	None	Inside major arc			Aged tissues	Parkinson Disease				PCR; Sequencing	None	1	[114]
8491	13448	4956	None	Inside major arc						Solid tumors		No information	No information	1	[157]
8503	13425	4921	None	Inside major arc			Unfertilized oocytes, arrested embryos or 3PN embryos					PCR; Sequencing	None	1	[21]
8518	15422	6903	None	Inside major arc	PEO; KSS						MELAS	PCR; Sequencing; Southern blot	PvuII	2	[40; 43]
8527	13718	5190	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
8536	15439	6902	None	Inside major arc	PS						Anemia and Renal Tubulopathy	Southern blot; PCR	None	2	[1; 2]
8536	15642	7105	None	Inside major arc							Multisystemic mitochondrial disorders (single del)	Southern blot; PCR	HindIII	1	[3]
8547	15727	7179	None	Inside major arc			Aged tissues					PCR; Cloning; Sequencing	None	1	[175]
8553	15585	7031	None	Inside major arc			Aged tissues					PCR; Cloning; Sequencing	None	1	[175]
8555	13980	5424	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
8561	13985	5423	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
8562	13759	5196	None	Inside major arc	PEO						HeLa cells	Southern blot	PvuII	2	[150; 151]
8563	14596	6032	None	Inside major arc	KSS; PEO							PCR; Sequencing; Southern Blot	BamHI; HindIII; EcoRI; PstI; AvaII	1	[11]
8563	15435	6871	None	Inside major arc		ad/ar-PEO					Ptosis; Proximal limb weakness; Chronic fatigue syndrome; Ataxia; Seizures; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
8564	16072	7507	None	Inside major arc			Sublimons					PCR; Cloning; Sequencing; Southern blot	BamHI	1	[23]
8569	15879	7309	None	Inside major arc							Crohn's disease	PCR; Southern blot; Cloning; Sequencing	PstI; HindIII	1	[20]
8571	13237	4665	None	Inside major arc	KSS; PEO							PCR; Southern Blot	BamHI; HindIII; EcoRI; PstI; AvaII	3	[11-13]
8572	15826	7253	None	Inside major arc	KSS							PCR; Sequencing	None	1	[259]
8572	13997	5424	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
8576	12984	4407	None	Inside major arc			Aged tissues				Ptosis	Southern blot; PCR	None	2	[2; 14]
8576	16075	7498	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
8576	13962	5385	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
8577	15731	7153	None	Inside major arc							Multisystemic mitochondrial disorders	Southern blot; PCR; Sequencing	BamHI; HindIII	2	[136; 265]
8580	15239	6658	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
8580	15539	6958	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
8583	15958	7374	None	Inside major arc	PS							Southern blot; PCR; Sequencing	PvuII	1	[143]
8587	15738	7150	None	Inside major arc			Aged tissues; Unfertilized oocytes					PCR; Sequencing	None	2	[21; 175]
8588	13730	5141	None	Inside major arc	PEO; KSS							Southern blot; PCR	None	1	[2]
8601	15731	7129	None	Inside major arc		Multiple deletion Patient (POLG1mut)	Aged tissues				PEO, Parkinson	PCR; Sequencing	None	2	[33; 290]
8612	16072	7459	None	Inside major arc							Chronic fatigue syndrome	PCR; Sequencing	None	1	[162]
8612	13575	4962	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
8623	15662	7038	None	Inside major arc							Mitochondrial myopathy	Southern blot; Sequencing	None	1	[110]
8623	15663	7039	None	Inside major arc							Myopathic symptoms	PCR; Southern blot; Sequencing	BamHI	1	[29]
8624	13886	5261	None	Inside major arc	PEO							PCR; Sequencing; Southern Blot	BamHI; HindIII; EcoRI; PstI; AvaII	2	[11; 265]
8624	15662	7037	None	Inside major arc		Mitochondrial myopathy						No information	No information	1	[292]
8630	16067	7436	None	Inside major arc							ad-Oculopharyngeal muscular dystrophy	PCR; Sequencing	None	1	[37]
8631	13580	4948	None	Inside major arc	KSS							Southern blot; PCR; Sequencing	PvuII; SnaBI	1	[149]
8631	13513	4881	None	Inside major arc							Chronic fatigue syndrome	PCR; Sequencing	None	1	[162]
8635	16074	7438	None	Inside major arc					Autossomal dominant hereditary inclusion body myopathy			PCR; Sequencing	None	1	[22]
8637	16084	7446	None	Inside major arc							Dilated cardiomyopathy	PCR	PvuII	1	[147]
8640	15369	6728	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
8640	13378	4737	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
8641	16241	7599	None	Inside major arc			Spermatozoa					PCR; Cloning; Sequencing	None	1	[27]
8645	15656	7010	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
8648	16085	7436	None	Inside major arc	PS	Mitochondrial myopathy	Sublimons; Aged tissues; Unfertilized oocytes		Inclusion body myositis	Hepatic tumors	Cirrhotic liver; Diabetes mellitus and adrenal insufficiency; Chronic fatigue syndrome; Cardiomyopathy; Multiorgan involvement (Sporadic); Adrenal insuffiency and deafness; Diabetes mellitus and adrenal insufficiency	PCR; Southern blot; Sequencing; Cloning	PvuII; SnaBI; BamHI; DraI; KpnI; MscI; StuI; XbaI	17	[18; 21-24; 29; 107; 144; 146; 153; 162-167; 265]
8651	16071	7419	None	Inside major arc		Mitochondrial myopathy					Proximal limb weakness; Chronic fatigue syndrome	PCR; Cloning; Sequencing	None	1	[15]
8662	14817	6154	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
8663	16075	7411	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
8664	15363	6698	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
8697	15938	7240	None	Inside major arc							ad-Oculopharyngeal muscular dystrophy	PCR; Sequencing	None	1	[37]
8707	13723	5015	None	Inside major arc	PEO							PCR; Sequencing	None	1	[115]
8711	13550	4838	None	Inside major arc							Smokers	PCR; Sequencing	None	1	[16]
8711	15988	7276	None	Inside major arc			Unfertilized oocytes, arrested embryos or 3PN embryos					PCR; Sequencing	None	1	[21]
8723	9215	491	None	Inside major arc							Alcoholism	PCR; Sequencing	None	1	[50]
8728	13699	4970	None	Inside major arc		sideroblastic anemia/mitochondrial myopathy					Mild pancreatic insufficiency and progressive muscle weakness; Autosomal dominant inheritance	Southern blot; PCR; Sequencing	PvuII	1	[277]
8775	13991	5215	None	Inside major arc		sideroblastic anemia/mitochondrial myopathy					Mild pancreatic insufficiency and progressive muscle weakness; Autosomal dominant inheritance	Southern blot; PCR; Sequencing	PvuII	1	[277]
8777	14006	5228	None	Inside major arc			Unfertilized oocytes, arrested embryos or 3PN embryos					PCR; Sequencing	None	1	[21]
8810	15638	6827	None	Inside major arc			Unfertilized oocytes, arrested embryos or 3PN embryos					PCR; Sequencing	None	1	[21]
8813	13304	4490	None	Inside major arc	PEO							PCR; Southern blot; Sequencing	PvuII; SnaBI; BamHI	1	[18]
8815	15846	7030	None	Inside major arc			Aged tissues					PCR; Cloning; Sequencing	None	1	[175]
8817	15610	6792	None	Inside major arc	PEO							Southern blot	PvuII; PstI; BspEI; NdeI; AspI; SnaBI; BamHI	1	[44]
8823	15855	7031	None	Inside major arc	KSS; PEO							PCR; Sequencing; Southern Blot	BamHI; HindIII; EcoRI; PstI; AvaII	2	[11; 265]
8825	15658	6832	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
8838	14906	6067	None	Inside major arc	KSS						Mitochondrial myopathy; Multisystemic mitochondrial disorders	Southern blot; PCR; Sequencing	PvuII; HindIII; BamHI; EcoRI; SnaBI	3	[136; 137; 265]
8893	15503	6609	None	Inside major arc			Aged tissues					PCR; Sequencing	No information	1	[32]
8904	14903	5998	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
8905	14110	5204	None	Inside major arc							Chronic uremia	PCR; Sequencing	None	1	[38]
8933	13768	4834	None	Inside major arc		sideroblastic anemia/mitochondrial myopathy					Mild pancreatic insufficiency and progressive muscle weakness; Autosomal dominant inheritance	Southern blot; PCR; Sequencing	PvuII	1	[277]
8989	13997	5007	None	Inside major arc			Unfertilized oocytes, arrested embryos or 3PN embryos					PCR; Sequencing	None	1	[21]
8992	16072	7079	None	Inside major arc						Hepatic tumors	Cirrhotic liver; Cardiomyopathy; Dilated cardiomyopathy	PCR; Southern blot; Sequencing	No information	3	[144-146]
8992	16074	7081	None	Inside major arc						Hepatic tumors	Cirrhotic liver	PCR; Southern blot; Sequencing	No information	2	[25; 146]
8993	13563	4569	None	Inside major arc		ad-PEO						PCR; Sequencing; Southern Blot	BamHI; PvuII	1	[176]
8996	16070	7073	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	2	[24; 25]
9009	16355	7345	None	Inside major arc			Spermatozoa					PCR; Cloning; Sequencing	None	1	[27]
9016	14576	5559	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
9021	13833	4811	None	Inside major arc	PEO							PCR; Southern blot; Sequencing	PvuII; SnaBI; BamHI	1	[18]
9070	13476	4405	None	Inside major arc		ad-PEO						PCR; Sequencing; Southern Blot	BamHI; PvuII	1	[176]
9079	15312	6232	None	Inside major arc		ad-PEO; Mitochondrial myopathy					Peripheral myopathy	Southern blot; PCR; Sequencing	PvuII; BamHI	3	[7; 284; 285]
9084	15438	6353	None	Inside major arc		ad/ar-PEO					Ptosis; Proximal limb weakness; Chronic fatigue syndrome; Ataxia; Seizures; other neurological symptoms	PCR; Cloning; Sequencing	None	1	[15]
9087	13155	4067	None	Inside major arc					Autossomal dominant hereditary inclusion body myopathy			PCR; Sequencing	None	1	[22]
9143	13333	4189	None	Inside major arc					Autossomal dominant hereditary inclusion body myopathy			PCR; Sequencing	None	1	[22]
9144	13816	4671	None	Inside major arc	KSS							PCR; Sequencing	None	2	[118; 265]
9180	14281	5100	None	Inside major arc	KSS; PEO							PCR; Sequencing; Southern Blot	BamHI; HindIII; EcoRI; PstI; AvaII	1	[11]
9191	12909	3717	None	Inside major arc							Mitochondrial myopathy	Southern blot; Sequencing	None	1	[110]
9191	15322	6130	None	Inside major arc			Unfertilized oocytes, arrested embryos or 3PN embryos					PCR; Sequencing	None	1	[21]
9194	15323	6128	None	Inside major arc		ad-PEO; Mitochondrial myopathy					Peripheral myopathy	Southern blot; PCR; Sequencing	PvuII; BamHI	3	[7; 284; 285]
9238	15576	6337	None	Inside major arc	PS							Southern blot; PCR; Sequencing	No information	1	[299]
9246	13058	3811	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
9253	14425	5171	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
9258	13627	4368	None	Inside major arc	KSS							Southern blot; PCR	HindIII	1	[3]
9258	14429	5170	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
9268	16068	6799	None	Inside major arc					Inclusion body myositis			PCR; Sequencing	None	1	[24]
9281	13810	4528	None	Inside major arc		Mitochondrial myopathy					Peripheral myopathy	Southern blot; PCR; Sequencing	PvuII	1	[7]
9320	14273	4952	None	Inside major arc	PEO							PCR; Southern blot; Sequencing	PvuII; BamHI	1	[130]
9345	13148	3802	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
9351	13154	3802	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
9357	13865	4507	None	Inside major arc	PEO							PCR; Sequencing	None	2	[119; 265]
9417	13684	4266	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
9436	15913	6476	None	Inside major arc			Aged tissues					PCR-denaturing gradient gel electrophoresis; PCR	None	1	[17]
9440	14083	4642	None	Inside major arc		Mitochondrial myopathy	Unfertilized oocytes, arrested embryos or 3PN embryos				Peripheral myopathy	PCR; Sequencing; Southern blot	PvuII	2	[7; 21]
9444	13964	4519	None	Inside major arc		Mitochondrial myopathy					Peripheral myopathy	Southern blot; PCR; Sequencing	PvuII	1	[7]
9484	13724	4239	None	Inside major arc	KSS							PCR; Sequencing	None	1	[153]
9486	9502	15	None	Inside major arc						Osteosarcoma cell line	Recurrent myoglobinuria; Mitochondrial myopathy; COX deficiency	PCR	None	4	[268-271]
9490	16072	6581	None	Inside major arc							Myopathic symptoms	PCR; Southern blot; Sequencing	BamHI	1	[29]
9497	13735	4237	None	Inside major arc	KSS; PEO; PS	Mitochondrial myopathy	Aged tissues; Unfertilized oocytes				Peripheral myopathy; Mitochondrial cytopathy; LS	PCR; Sequencing; Southern blot	PvuII; SnaBI; BamHI; NcoI	6	[7; 18; 21; 26; 32; 280]
9514	13052	3537	None	Inside major arc	PEO							Southern blot	PvuII; PstI; BspEI; NdeI; AspI; SnaBI; BamHI	1	[44]
9515	13055	3539	None	Inside major arc							Ocular myopathy	Southern blot; PCR; Sequencing	BamHI; XbaI; AvaI	1	[112]
9532	14135	4602	None	Inside major arc		Mitochondrial myopathy					Peripheral myopathy	Southern blot; PCR; Sequencing	PvuII	1	[7]
9537	15519	5981	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
9538	15537	5998	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
9538	15658	6119	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
9574	12972	3397	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[111]
9574	10166	591	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
9574	13951	4376	None	Inside major arc		Mitochondrial myopathy					Peripheral myopathy	Southern blot; PCR; Sequencing	PvuII	1	[7]
9576	13942	4365	None	Inside major arc			Aged tissues					PCR; Sequencing	No information	1	[32]
9587	13953	4365	None	Inside major arc			Aged tissues; Unfertilized oocytes					PCR; Sequencing	None	2	[9; 21 ]
9591	13052	3460	None	Inside major arc							Myotonic dystrophy	No information	No information	1	[278]
9603	14141	4537	None	Inside major arc		Mitochondrial myopathy	Aged tissues				Peripheral myopathy	PCR; Southern blot	KpnI; XbaI; PvuII	2	[6; 7]
9609	14147	4537	None	Inside major arc		Mitochondrial myopathy					Peripheral myopathy	Southern blot; PCR; Sequencing	PvuII	1	[7]
9622	15812	6189	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
9625	15435	5809	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[290]
9659	11536	1876	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
9665	15183	5517	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
9698	13735	4036	None	Inside major arc			Unfertilized oocytes, arrested embryos or 3PN embryos					PCR; Sequencing	None	1	[21]
9729	15338	5608	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
9744	14439	4694	None	Inside major arc			Aged tissues					PCR; Sequencing	No information	1	[32]
9773	13756	3982	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
9799	15557	5757	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
9816	15744	5927	None	Inside major arc	PEO							Southern blot; PCR; Sequencing	PvuII	1	[26]
9845	16065	6219	None	Inside major arc		ad-PEO						Southern blot; PCR; Sequencing	PvuII	1	[279]
9860	15026	5165	None	Inside major arc			Aged tissues					PCR; Sequencing	No information	1	[32]
9923	16073	6149	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
9924	15194	5269	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[33]
9966	15801	5834	None	Inside major arc		ad-PEO						Southern blot; PCR; Sequencing	PvuII	1	[279]
9995	15897	5901	None	Inside major arc	PS							No information	No information	3	[107; 116; 265]
10004	15360	5355	None	Inside major arc	PEO; PS							Southern blot; PCR; Sequencing	PvuII; BamHI; SnaBI	1	[297]
10051	15077	5025	None	Inside major arc	KSS						Sensorineural hearing loss	PCR	None	2	[61; 276]
10063	14598	4534	None	Inside major arc	KSS						Isolated mitochondrial myopathy	Southern blot; PCR; Sequencing	No information	2	[40; 41]
10071	14622	4550	None	Inside major arc		Multiple deletion Patient (POLG1mut)					PEO, Parkinson	PCR; Sequencing	None	1	[33]
10080	14959	4878	None	Inside major arc	PEO						Diabetes and deafness	PCR; Sequencing	None	1	[153]
10104	11868	1763	None	Inside major arc				Parkinson Disease				PCR; Sequencing	None	1	[33]
10154	15945	5790	None	Inside major arc	PEO; KSS							PCR; Sequencing; In situ hybridization	HaeIII	3	[40; 138; 161]
10169	14435	4265	None	Inside major arc	KSS; PEO							PCR; Sequencing; Southern Blot	BamHI; HindIII; EcoRI; PstI; AvaII	1	[11]
10186	13759	3572	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[14]
10198	13761	3562	None	Inside major arc	PS							No information	No information	3	[107; 116; 265]
10207	13766	3558	None	Inside major arc	KSS							Southern blot; PCR; Sequencing	None	1	[36]
10367	12829	2461	None	Inside major arc	PS							PCR; Sequencing; Southern Blot	BamHI	1	[158]
10370	15570	5199	None	Inside major arc	KSS							PCR; Sequencing	None	1	[40]
10418	15570	5151	None	Inside major arc	PS							Southern blot; PCR	HindIII	1	[3]
10497	14760	4262	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
10559	14981	4421	None	Inside major arc	PS; KSS							Southern blot; PCR	HindIII	1	[3]
10587	15913	5325	None	Inside major arc	KSS							PCR; Sequencing	None	1	[40]
10598	13206	2607	None	Inside major arc							Chronic tubulointerstitial nephritis	Southern blot; PCR; Sequencing	PvuII	1	[113]
10625	13059	2433	None	Inside major arc	KSS							Southern blot; PCR; Sequencing	PvuII	1	[26]
10668	14859	4190	None	Inside major arc	PS						Chronic diarrhea and villous atrophy	Southern blot; PCR; Sequencing	No information	3	[107; 116; 135]
10676	14868	4191	None	Inside major arc	PS							Southern blot; PCR; Sequencing	None	1	[125]
10746	14125	3378	None	Inside major arc		Mitochondrial myopathy					Peripheral myopathy	Southern blot; PCR; Sequencing	PvuII	1	[7]
10749	14129	3379	None	Inside major arc			Aged tissues				Chronic diarrhea and villous atrophy	PCR; Southern blot; Sequencing	KpnI; XbaI	3	[6; 135; 265]
10758	14138	3379	None	Inside major arc		Mitochondrial myopathy					Peripheral myopathy	Southern blot; PCR; Sequencing	PvuII	1	[7]
10925	14152	3226	None	Inside major arc		Mitochondrial myopathy					Peripheral myopathy	Southern blot; PCR; Sequencing	PvuII	1	[7]
10935	13773	2837	None	Inside major arc	PEO						Skeletal muscle symptoms	PCR; Southern blot; Sequencing	PvuII; SnaBI; BamHI	1	[18]
10939	15530	4590	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
10940	15546	4605	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
10943	15372	4428	None	Inside major arc							Cyclic vomiting syndrome	Southern blot; PCR; Sequencing	None	1	[139]
10946	13781	2834	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
10951	15372	4420	None	Inside major arc	PEO; KSS							PCR; Southern blot; Sequencing	PvuII; SnaBI; BamHI; PstI; BspEI; NdeI; AspI	5	[18; 26; 40; 44; 265]
10952	13990	3037	None	Inside major arc	KSS							Southern blot; PCR	HindIII	1	[3]
10952	15373	4420	None	Inside major arc	PEO							PCR; Sequencing	None	1	[40]
10953	15837	4883	None	Inside major arc	KSS						Mitochondrial myopathy; Multisystemic mitochondrial disorders	Southern blot; PCR; Sequencing	PvuII; HindIII; BamHI; EcoRI; SnaBI	2	[136; 137]
10953	14133	3179	None	Inside major arc							Multiorgan involvement (Sporadic)	PCR; Southern blot; Sequencing	PvuII; SnaBI; BamHI	1	[18]
10961	15846	4884	None	Inside major arc							Mitochondrial myopathy; COX deficiency	Southern blot; In situ hybridization	None	2	[108; 265]
10969	14119	3149	None	Inside major arc	KSS						Cyclic vomiting syndrome	Southern blot; PCR	None	1	[127]
10984	15543	4558	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
11035	15183	4147	None	Inside major arc	PEO							PCR; Sequencing	None	1	[153]
11035	15159	4123	None	Inside major arc							Cerebral folate deficiency and leukoencephalopathy	Southern blot; PCR; Sequencing	None	1	[293]
11036	15028	3991	None	Inside major arc	KSS							PCR; Southern blot; Sequencing	PvuII; SnaBI; BamHI	1	[18]
11036	15441	4404	None	Inside major arc	PS							Southern blot; PCR	None	1	[2]
11065	15860	4794	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
11232	13980	2747	None	Inside major arc	PS						Diabetes mellitus and deafness	Southern blot; PCR; Sequencing	None	5	[116; 123-125; 265]
11240	15036	3795	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
11258	14369	3110	None	Inside major arc	KSS							Southern blot; PCR; Sequencing	PvuII; BamHI	1	[30]
11368	15786	4417	None	Inside major arc	KSS; PEO							PCR; Sequencing; Southern Blot	BamHI; HindIII; EcoRI; PstI; AvaII	1	[11]
11479	16071	4591	None	Inside major arc		MNGIE						No information	No information	2	[25; 282]
11514	13810	2295	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
11648	13811	2162	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
11668	15916	4247	None	Inside major arc	KSS							PCR; Southern blot; Sequencing	PvuII; SnaBI; BamHI	1	[18]
11680	14258	2577	None	Inside major arc	PEO							PCR; Southern blot; Sequencing	PvuII; SnaBI; BamHI	1	[18]
11731	14450	2718	None	Inside major arc	KSS							Southern blot; PCR; Sequencing	PvuII	1	[26]
11739	15572	3832	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
11986	13792	1805	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
12021	16075	4053	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
12084	15854	3769	None	Inside major arc			Aged tissues					PCR; Sequencing	None	1	[9]
12103	14414	2310	None	Inside major arc	KSS; PEO							PCR; Sequencing; Southern Blot	BamHI; HindIII; EcoRI; PstI; AvaII	2	[11; 265]
12104	14413	2308	None	Inside major arc	KSS; PS; PEO						Reye-like; MELAS; LS; Mitochondrial encephalomyopathy; Mitochondrial myopathy	Southern blot; PCR; Sequencing	None	5	[45-48; 107]
12112	14422	2309	None	Inside major arc	KSS; PEO; PS						Reye-like; MELAS; LS	Southern blot; PCR; Sequencing	PvuII; PstI; BspEI; NdeI; AspI; SnaBI; BamHI	7	[26; 40; 44-48]
12113	14422	2308	None	Inside major arc	PS							No information	No information	1	[107]
12113	14421	2307	None	Inside major arc	PS							Southern blot; PCR	HindIII	1	[3]
12122	15844	3721	None	Inside major arc	KSS							PCR; Southern blot; Sequencing	BamHI	1	[29]
12203	15355	3151	None	Inside major arc	PEO; KSS						Isolated mitochondrial myopathy	Southern blot; PCR; Sequencing; In situ hybridization	None	1	[41; 138]
12439	15390	2950	None	Inside major arc	PEO						Chronic fatigue syndrome; Axial hypotonia	PCR; Sequencing	None	1	[153]
12544	15525	2980	None	Inside major arc			Aged tissues					PCR	KpnI; XbaI	1	[6]
13761	14252	490	None	Inside major arc		Mitochondrial myopathy					Peripheral myopathy	Southern blot; PCR; Sequencing	PvuII	1	[7]
14786	14791	4	None	Inside major arc				Parkinson Disease			MELAS	No information	No information	1	[273]
14927	14943	15	None	Inside major arc						Thyroid tumor		PCR	None	1	[49]
15497	15522	24	None	Inside major arc							Chronic fatigue syndrome; Histiocytoid cardiomyopathy	PCR; Sequencing	None	3	[272; 287; 288]
15643	15665	21	None	Inside major arc						Bladder, head and neck, and lung primary tumors		PCR; Sequencing	None	2	[51; 52]
16164	16319	154	None	Inside major arc			Aged tissues; Controls					PCR; Sequencing	None	2	[9; 281]
16266	576	878	OH	With part of minor and major arcs		MNGIE						Southern blot; PCR; Sequencing; Cloning	PvuII; SnaBI	1	[291]