| No | Gender/age | Clinical features | tRNA mutation | OXPHOS enzyme activities |
| 1 | F/36 | MERRF | Lys A8344G | Spectrophotometric analysis: I&IV low; BN-PAGE: I&IV low, V subcomplexes |
| 2 | M/<1 | Leigh syndrome | Lys A8344G | Spectrophotometric analysis: normal |
| 3 | M/27 | MELAS | Leu A3251G | ND |
| 4 | F/55 | MELAS | Leu A3251G | ND |
| 5 | F/45 | Limb girdle-like | Tyr 5888insA | Spectrophotometric analysis: normal; BN-PAGE: V subcomplexes |
| 6 | M/57 | Exercise intolerance | Cys* | ND |
*New mutation.
OXPHOS, oxidative phosphorylation; MERRF, myoclonic epilepsy and ragged red fibres; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; BN-PAGE, blue native polyacrylamide gel electrophoresis; ND, not determined.