| Myoclonus epilepsy with ragged-red fibres (MERRF) |
MTTK |
A8344G, T8356C, G8361A |
Generalized epilepsy, ataxia, and myopathy |
| MTTF |
G611A |
| Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) |
MTTL1 |
A3243G, G3244A, A3252G, C3256T, T3271C, T3291C |
Epilepsy, encephalopathy, myopathy, severe constipation, failure to thrive |
| MTTV |
G1642A |
| MTTF |
G583A |
| MTRNR2 |
C3093G |
| MTND1 |
T3308C, G3376A, G3697A, G3946A, T3949C |
| MTND4 |
A11084G |
| MTND5 |
A12770G, A13045C, A13084T, G13513A, A13514G |
| MTND6 |
G14453A |
| MTCYB |
14787Ddel4 |
| Kearns–Sayre syndrome (KSS) |
MTTL1 |
G3249A |
Short stature, diabetes mellitus, cardiomyopathy, ataxia |
| Chronic progressive external ophthalmoplegia (CPEO) |
MTTL1 |
C3254T |
Ptosis, muscle weakness |
| MTT1 |
T4274C, T4285C, G4298A, G4309A |
| MTTA |
T5628C |
| MTTN |
T5692C |
| MTTN |
G5698A |
| MTTN |
G5703G |
| MTTK |
G8342A |
| MTTL2 |
G12294A, A12308G, T12311C, G12325A |
| MTND4 |
T11232C |
| Neuropathy, ataxia, and retinitis pigmentosa (NARP) |
MTATP6 |
T8993C, T8993G |
Blindness, cerebellar ataxia, seizures, cognitive impairment, and peripheral neuropathy |
| Leigh syndrome(LS) |
MTTV |
C1624T |
Lactic acidosis, failure to thrive, myopathy, bilateral symmetrical lesions in the subcortical brain |
| MTND3 |
T10158C |
| MTND4 |
C11777A |
| MTND5 |
T12706C |
| MTATP6 |
T9176C, T9176G, T9185C, T9191C, T8993C |
