Feature | Description |
---|---|
Growth | Normal growth |
Development | Normal early milestones and intelligence, presenting with neuromuscular weakness in childhood |
Facial | No abnormalities noticed |
Musculoskeletal | No bone deformities; progressive myopathy |
Integument | Normal |
Cardiac | Progressive cardiomyopathya |
Liver | Normal |
Neurologic | Muscular weakness and muscle atrophy |
Genital | Normal |