Patients with A3243G mutation
| Pedigree (fig1) | LS3243 | MELAS3243 | MELAS3243 | PEO3243 | MDM3243 EIII3 | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AI4 | AII2 | AIII1 | AIII2 | AIII3 | AIII4 | BI2 | BII1 | BII2 | CI2 | CII1 | CII2 | DI4 | DII4 | DII5 | DIII2 | DIII3 | |||||
| Age at biopsy (y) | ND | ND | ND | ND | 4 | ND | ND | ND | 13 | ND | ND | 26 | ND | ND | ND | ND | 42 | 27 | |||
| Age of onset (y) | 42 | 46 | 16 | N | 1 | N | 24 | 15 | 3 | 24 | 16 | 12 | 24 | 26 | 23 | 32 | 18 | 15 | |||
| Muscle weakness | + | + | − | − | + | − | − | − | + | − | − | + | − | − | − | − | + | + | |||
| Hearing loss | − | − | + | − | + | − | − | − | + | − | − | + | − | − | − | − | − | − | |||
| Stroke | − | − | − | − | + | − | − | − | + | − | − | + | − | − | − | − | − | − | |||
| Ophthalmoplegia | − | − | − | − | + | − | − | − | − | − | − | − | + | + | + | + | + | − | |||
| Seizure | − | − | + | − | − | − | − | − | + | − | − | + | − | − | − | − | − | − | |||
| Migraine headache | + | + | + | − | + | − | + | + | + | + | + | + | − | + | − | − | + | + | |||
| Mental retardation | − | − | + | − | − | − | − | − | + | − | − | + | − | − | − | − | − | − | |||
| Short stature | + | + | + | + | + | + | + | − | + | + | + | + | − | − | − | + | + | + | |||
| Lactic acidosis | − | − | − | − | + | − | − | − | + | − | − | + | − | − | − | − | − | − | |||
ND, not done; N, normal or asymptomatic.