Clinical and molecular genetic data
| Patients | Age onset | Sex | Neurological signs | MRI/CT | % Mutant mtDNA | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Peripheral neuropathy | Retinopathy | Mental retardation | Basal ganglia | Brainstem | Cerebellar atrophy | Blood | Fibroblasts | Muscle | |||||||
| Ped AIV/2 | 3 months | M | ND | − | +++ | +++ | − | − | >95 | >95 | >95 | ||||
| Ped BIII/1 | 6 months | F | ND | ++ | +++ | +++ | − | − | ND | ND | >95 | ||||
| Ped CIII/1 | 6 months | F | ND | − | +++ | +++ | +++ | +++ | >95 | 73 | 85 | ||||
| II/1 | 10 y | F | + | ++ | ++ | ND | ND | ND | 66 | 81 | ND | ||||
| II/2 | 8 y | M | + | +++ | +++ | ND | ND | ND | 78 | ND | ND | ||||
| II/3 | 10 y | F | + | +++ | + | ++ | − | ++ | 76 | ND | ND | ||||
| II/4 | 12 y | F | ++ | +++ | +++ | − | − | ++ | 58 | ND | ND | ||||
| Ped DIII/1 | 5 y | M | − | ++ | + | +++ | − | ++ | 83 | 83 | 83 | ||||
| Ped EII/1 | 4 y | M | + | +++ | + | +++ | + | + | ND | ND | 87 | ||||
| Ped FIV/5 | 1 y | M | + | +++ | ++ | − | − | + | 85 | ND | ND | ||||
| Ped FIII/10 | 32 y | F | − | +++ | − | − | − | − | 55 | ND | ND | ||||
− = Normal or absent; + = mild alterations; ++ = moderate alterations; +++ = severe alterations; ND = not determined.