[Oculocraniosomatic neuromuscular disease].
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.
D000293:Adolescent; D001763:Blepharoptosis / Q000473:pathology; D009202:Cardiomyopathies / Q000473:pathology*; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009468:Neuromuscular Diseases / Q000473:pathology*; D009886:Ophthalmoplegia / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000473:pathology*; D013577:Syndrome
Maladie neuromusculaire oculo-cranio-somatique.