[Oculocraniosomatic neuromuscular disease]
- PMID: 496542
[Oculocraniosomatic neuromuscular disease]
Abstract
A child with a myopathy that started in the pelvic girdle, non-obstructive cardiomyopathy and retinitis pigmentosa is described. There was a progressive neurological deterioration with external ophthalmoplegia and ptosis. The clinical course could be predicted from the appearance of the muscle biopsy.