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. Author manuscript; available in PMC: 2007 Jan 4.
Published in final edited form as: Nat Rev Genet. 2005 May;6(5):389–402. doi: 10.1038/nrg1606

Table 2.

Clinical disorders that are caused by mutations in mitochondrial DNA

Mitochondrial DNA Disorder Clinical phenotype mtDNA genotype Gene Status Inheritance Reference
Kearns–Sayre syndrome Progressive myopathy, ophthalmoplegia, cardiomyopathy A single, large-scale deletion Several deleted genes Heteroplasmic Usually sporadic 61,158
CPEO Ophthalmoplegia A single, large-scale deletion Several deleted genes Heteroplasmic Usually sporadic 61, 64
Pearson syndrome Pancytopoenia, lactic acidosis A single, large-scale deletion Several deleted genes Heteroplasmic Usually sporadic 65
MELAS Myopathy, encephalopathy lactic acidosis, stroke-like episodes 3243A>G; 3271T>C TRNL1 Heteroplasmic Maternal 159
Individual mutations ND1 and ND5 Heteroplasmic Maternal 160, 161
MERRF Myoclonic epilepsy, myopathy 8344A>G; 8356T>C TRNK Heteroplasmic Maternal 162
NARP Neuropathy, ataxia, retinitis pigmentosa 8993T>G ATP6 Heteroplasmic Maternal 163
MILS Progressive brain-stem disorder 8993T>C ATP6 Heteroplasmic Maternal 67
MIDD Diabetes, deafness 3243A>G TRNL1 Heteroplasmic Maternal 164
LHON Optic neuropathy 3460G>A ND1 Hetero- or homoplasmic Maternal 165
11778G>A ND4 Hetero- or homoplasmic Maternal 62
14484T>C ND6 Hetero- or homoplasmic Maternal 166
Myopathy and diabetes Myopathy, weakness, diabetes 14709T>C TRNE Hetero- or homoplasmic Maternal 167,168
Sensorineural hearing loss Deafness 1555A>G RNR1 Homoplasmic Maternal 55
Individual mutations TRNS1 Hetero- or homoplasmic Maternal 169,170
Exercise intolerance Fatigue, muscle weakness Individual mutations CYB Heteroplasmic Sporadic 68
Fatal, infantile encephalopathy; Leigh/Leigh-like syndrome Encephalopathy, lactic acidosis 10158T>C; 10191T>C ND3 Heteroplasmic Sporadic 66

ATP6, ATPase 6; CPEO, chronic progressive external ophthalmoplegia; CYB, cytochrome b; LHON, Leber hereditary optic neuropathy; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; MERRF, myoclonic epilepsy and ragged-red fibres; MIDD, maternally-inherited diabetes and deafness; MILS, maternally-inherited Leigh syndrome; ND1,3–6, NADH dehydrogenase subunits 1,3–6; NARP, neurogenic weakness, ataxia and retinitis pigmentosa; RNR1, 12S ribosomal RNA; TRNE,TRNK,TRNL1,TRNS1, mitochondrial tRNAs.