Summary of clinical features seen in 129 patients with the m.3243A>G mutation from ‘The UK MRC Mitochondrial Disease Patient Cohort Study’
| Clinical phenotype | Number of patients (M : F) (n=129) | Non-syndromic clinical features | |||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CPEO | Retinopathy | SNHL | DM | CVA-like episodes | Encephalopathy | Proximal myopathy | Ataxia | Migraine | Seizures | Dystonia | DD or cognitive decline | GI | SS | CM | |||
| D | H | ||||||||||||||||
| MELAS | 13 (7:6) | 0 | 1 | 3 | 2 | 13 | 13 | 2 | 4 | 5 | 7 | 1 | 3 | 1 | 1 | 1 | 4 |
| MIDD | 39 (15:24) | 0 | 11 | 39 | 39 | 1 | 0 | 8 | 7 | 8 | 3 | 0 | 0 | 4 | 2 | 3 | 6 |
| MELAS/MIDD | 8 (4:4) | 0 | 0 | 8 | 8 | 8 | 8 | 4 | 5 | 2 | 5 | 0 | 0 | 0 | 0 | 0 | 3 |
| CPEO | 0 (0:0) | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – |
| MELAS/CPEO | 2 (0:2) | 2 | 1 | 1 | 1 | 2 | 2 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| MIDD/CPEO | 6 (4:2) | 6 | 2 | 6 | 6 | 0 | 1 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 |
| CPEO+ | 8 (4:4) | 8 | 0 | 2 | 1 | 1 | 1 | 4 | 3 | 5 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| MERRF | 1 (1:0) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| Isolated SNHL | 4 (2:2) | 0 | 0 | 4 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Asymptomatic | 12 (3:9) | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – |
| Atypical | 36 (10:26) | 0 | 1 | 13 | 0 | 2 | 4 | 17 | 7 | 14 | 9 | 2 | 3 | 6 | 1 | 1 | 4 |
CM, cardiomyopathy; CPEO, chronic progressive external ophthalmoplegia; CVA, cerebrovascular accident; D, dilated; DD, developmental delay; DM, diabetes mellitus; F, female; GI, gastrointestinal; H, hypertrophic; M, male; MELAS, mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes; MERRF, myoclonic epilepsy with ragged red fibres; MIDD, maternally inherited deafness and diabetes; MRC, Medical Research Council; SNHL, sensorineural hearing loss; SS, short stature.