Familial myopathy associated with Marfanoid features and multicores.
The cases of a mother and son with a slowly progressive generalised myopathy and Marfanoid features are described. Muscle biopsies showed atrophy, type 1 fibre preponderance, excessive variation in fibre size and shape, and multiple foci of myofibrillar disorganisation with loss of oxidative enzyme activity of the type found in multicore disease.
D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009132:Muscles / Q000473:pathology*; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology