Species: Homo sapiens Rearrangement type: Deletions

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Single mtDNA deletions Deletion length - bp Deletion of replication origins Location of the deleted region Multiple mtDNA deletions Healthy tissues Parkinson Disease Inclusion Body Myositis Tumour Other clinical features All

PEO Bulbar weakness Cerebellar ataxia Chronic PEO Deafness Diabetes KSS Mitochondrial myopathy Mitochondrial myopathy Muscle atrophy Myopathy PS Pigmentary retinopathy Sporadic chronic PEO

Deletions	5' breakpoint	3' breakpoint	Deletion length - bp	Deletion of replication origins	Location of the deleted region	Single mtDNA deletions	Multiple mtDNA deletions	Healthy tissues	Parkinson Disease	Inclusion Body Myositis	Tumour	Other clinical features	References
Deletions	5' breakpoint	3' breakpoint	Deletion length - bp	Deletion of replication origins	Location of the deleted region	Single mtDNA deletions	Multiple mtDNA deletions	Healthy tissues	Parkinson Disease	Inclusion Body Myositis	Tumour	Other clinical features	References
547:4443	547	4443	3895	None	Inside the minor arc	KSS; PEO	ad/ar-PEO	Aged tissues; Skin (epithelial(...)			Non-melanoma skin cancer	PEO-like HIV patients; Chronic(...)	[14; 41; 138; 168-174; 265; 32(...)
5787:13920	5787	13920	8132	None	Inside the major arc	KSS; PEO	ad-PEO						[11; 279]
5787:13924	5787	13924	8136	None	Inside the major arc	KSS; PEO	ad-PEO	Aged tissues				Hippocampal tissue of patients(...)	[9; 11; 279; 330]
5834:10829	5834	10829	4994	None	Inside the major arc	PEO							[322]
6079:11305	6079	11305	5225	None	Inside the major arc	PEO	Mitochondrial myopathy						[322]
6203:14258	6203	14258	8054	None	Inside the major arc	PEO							[18]
6215:10976	6215	10976	4760	None	Inside the major arc	PEO							[10]
6310:15611	6310	15611	9300	None	Inside the major arc	PEO							[44]
6320:11272	6320	11272	4951	None	Inside the major arc	PEO							[44]
6329:13994	6329	13994	7664	None	Inside the major arc	KSS; PS; PEO		Aged tissues				Reye-like; MELAS; LS; Skeletal(...)	[9; 26; 32; 45; 119; 265; 326;(...)
6380:14096	6380	14096	7715	None	Inside the major arc	PEO							[40]
7115:10546	7115	10546	3430	None	Inside the major arc	PEO							[301]
7407:13620	7407	13620	6212	None	Inside the major arc	PEO							[26]
7448:13475	7448	13475	6026	None	Inside the major arc	PEO							[44]
7449:15926	7449	15926	8476	None	Inside the major arc	KSS; PEO							[11; 15]
7491:11004	7491	11004	3512	None	Inside the major arc	KSS; PEO						Complex I deficiency	[11; 154; 265]
7547:13475	7547	13475	5927	None	Inside the major arc	PEO							[296]
7669:15437	7669	15437	7767	None	Inside the major arc	KSS; PEO						Evolution from PS; Sideroblast(...)	[11; 155; 265]
7823:15389	7823	15389	7565	None	Inside the major arc	PEO							[40; 265; 326]
7846:9749	7846	9749	1902	None	Inside the major arc	PEO; KSS		Myoblasts					[40; 160; 161]
7864:15408	7864	15408	7543	None	Inside the major arc	PEO	Mitochondrial myopathy						[322]
7868:15545	7868	15545	7676	None	Inside the major arc	PEO						Multiple sclerosis	[320]
7889:15435	7889	15435	7545	None	Inside the major arc	PEO							[140]
7982:15504	7982	15504	7521	None	Inside the major arc	KSS; PEO	Mitochondrial myopathy					MELAS; Ptosis; Proximal limb w(...)	[15; 40; 42; 43; 265; 326; 330(...)
7989:15435	7989	15435	7445	None	Inside the major arc	PEO							[140]
8211:15340	8211	15340	7128	None	Inside the major arc	PEO							[138]
8380:13338	8380	13338	4957	None	Inside the major arc	PEO							[26]
8412:15664	8412	15664	7251	None	Inside the major arc	PEO						Hippocampal tissue of patients(...)	[142; 330]
8424:11503	8424	11503	3078	None	Inside the major arc	PEO							[304]
8426:14058	8426	14058	5631	None	Inside the major arc	PEO	Mitochondrial myopathy						[322]
8467:13444	8467	13444	4976	None	Inside the major arc	PEO							[44]
8468:13446	8468	13446	4977	None	Inside the major arc	KSS; PEO				Inclusion body myositis			[11; 24; 44]
8468:16073	8468	16073	7604	None	Inside the major arc	PEO							[322]
8479:13594	8479	13594	5114	None	Inside the major arc	PEO							[44]
8482:13460	8482	13460	4977	None	Inside the major arc	KSS; PEO; PS; Chronic PEO; Myo(...)	ad/ar-PEO; ad/ar-PEO (POLGmut)	Aged tissues; Unfertilized ooc(...)	Parkinson Disease	Inclusion body myopathy (ad); (...)	Thyroid, Hepatic, Warthin's, G(...)	Reye-like; Alzheimer Disease; (...)	[2; 6; 11; 18; 21; 22; 24; 25;(...)
8518:15422	8518	15422	6903	None	Inside the major arc	PEO; KSS						MELAS	[40; 43]
8562:13759	8562	13759	5196	None	Inside the major arc	PEO						HeLa cells	[150; 151]
8563:14596	8563	14596	6032	None	Inside the major arc	KSS; PEO							[11]
8571:13237	8571	13237	4665	None	Inside the major arc	KSS; PEO							[11-13]
8588:13730	8588	13730	5141	None	Inside the major arc	PEO; KSS							[2]
8624:13886	8624	13886	5261	None	Inside the major arc	PEO							[11; 265]
8707:13723	8707	13723	5015	None	Inside the major arc	PEO							[115]
8813:13304	8813	13304	4490	None	Inside the major arc	PEO							[18]
8817:15610	8817	15610	6792	None	Inside the major arc	PEO							[44]
8823:15855	8823	15855	7031	None	Inside the major arc	KSS; PEO							[11; 265]
9021:13833	9021	13833	4811	None	Inside the major arc	PEO							[18]
9180:14281	9180	14281	5100	None	Inside the major arc	KSS; PEO							[11]
9320:14273	9320	14273	4952	None	Inside the major arc	PEO							[130]
9357:13865	9357	13865	4507	None	Inside the major arc	PEO							[119; 265]
9497:13735	9497	13735	4237	None	Inside the major arc	KSS; PEO; PS	Mitochondrial myopathy	Aged tissues; Unfertilized ooc(...)				Peripheral myopathy; Mitochond(...)	[7; 18; 21; 26; 32; 280; 330]
9514:13052	9514	13052	3537	None	Inside the major arc	PEO							[44]
9519:15639	9519	15639	6119	None	Inside the major arc	PEO	Mitochondrial myopathy						[322]
9619:15835	9619	15835	6215	None	Inside the major arc	PEO							[322]
9762:13455	9762	13455	3692	None	Inside the major arc	PEO							[305]
9816:15744	9816	15744	5927	None	Inside the major arc	PEO							[26]
10004:15360	10004	15360	5355	None	Inside the major arc	PEO; PS							[297]
10080:14959	10080	14959	4878	None	Inside the major arc	PEO						Diabetes and deafness	[153]
10154:15945	10154	15945	5790	None	Inside the major arc	PEO; KSS							[40; 138; 161]
10169:14435	10169	14435	4265	None	Inside the major arc	KSS; PEO							[11]
10935:13773	10935	13773	2837	None	Inside the major arc	PEO						Skeletal muscle symptoms	[18]
10951:15372	10951	15372	4420	None	Inside the major arc	PEO; KSS						Skeletal muscle biopsies and ï(...)	[18; 26; 40; 44; 265; 329]
10952:15373	10952	15373	4420	None	Inside the major arc	PEO							[40]
11035:15183	11035	15183	4147	None	Inside the major arc	PEO							[153]
11368:15786	11368	15786	4417	None	Inside the major arc	KSS; PEO							[11]
11680:14258	11680	14258	2577	None	Inside the major arc	PEO							[18]
12103:14414	12103	14414	2310	None	Inside the major arc	KSS; PEO							[11; 265]
12104:14413	12104	14413	2308	None	Inside the major arc	KSS; PS; PEO						Reye-like; MELAS; LS; Mitochon(...)	[45-48; 107]
12112:14422	12112	14422	2309	None	Inside the major arc	KSS; PEO; PS						Reye-like; MELAS; LS; Multisys(...)	[26; 40; 44-48; 322]
12113:14421	12113	14421	2307	None	Inside the major arc	PS; Chronic PEO; Myopathy; Bul(...)							[3; 338]
12203:15355	12203	15355	3151	None	Inside the major arc	PEO; KSS						Isolated mitochondrial myopath(...)	[41; 138]
12439:15390	12439	15390	2950	None	Inside the major arc	PEO						Chronic fatigue syndrome; Axia(...)	[153]
9431:15423	9431	15423	5991	None	Inside the major arc	PEO; Chronic PEO							[333; 342]
2298:7535	2298	7535	5236	OL	Removing part of minor and maj(...)	PEO							[344]
3263:12300	3263	12300	9036	OL	Removing part of minor and maj(...)	Sporadic chronic PEO							[348]
5772:12916	5772	12916	7143	None	Inside the major arc	Chronic PEO; Myopathy							[338]
6004:11223	6004	11223	5218	None	Inside the major arc	Chronic PEO; Myopathy							[338]
6341:13989	6341	13989	7647	None	Inside the major arc	Chronic PEO; Myopathy; KSS							[338; 339]
6742:13223	6742	13223	6480	None	Inside the major arc	Chronic PEO; Myopathy							[338]
7128:13992	7128	13992	6863	None	Inside the major arc	Chronic PEO							[338]
7130:14628	7130	14628	7497	None	Inside the major arc	Chronic PEO							[338]
7205:12090	7205	12090	4884	None	Inside the major arc	Chronic PEO							[338]
7489:1442	7489	1442	10521	OH	Inside the minor arc	Chronic PEO						Skeletal muscle biopsies	[345]
7996:15056	7996	15056	7059	None	Inside the major arc	Chronic PEO						Skeletal muscle biopsies	[345]
8482:1345	8482	1345	9431	OH	Inside the minor arc	PEO							[347]
8543:15672	8543	15672	7128	None	Inside the major arc	Chronic PEO							[338]
8569:14603	8569	14603	6033	None	Inside the major arc	Chronic PEO; Myopathy							[338]
8577:12983	8577	12983	4405	None	Inside the major arc	Chronic PEO; Myopathy; PS							[338; 349]
8932:13304	8932	13304	4371	None	Inside the major arc	Chronic PEO							[338]
9487:13724	9487	13724	4236	None	Inside the major arc	Chronic PEO; Myopathy							[338]
9499:13740	9499	13740	4240	None	Inside the major arc	Chronic PEO; Myopathy							[338]
10747:15598	10747	15598	4850	None	Inside the major arc	Chronic PEO; Myopathy							[338]
10947:15588	10947	15588	4640	None	Inside the major arc	Chronic PEO; Myopathy; Deafnes(...)							[338]
11262:15375	11262	15375	4112	None	Inside the major arc	Chronic PEO; Myopathy							[338]
12112:14412	12112	14412	2299	None	Inside the major arc	Chronic PEO; Diabetes							[338]
12211:15556	12211	15556	3344	None	Inside the major arc	Chronic PEO							[338]
13041:15663	13041	15663	2621	None	Inside the major arc	Chronic PEO							[338]