Centronuclear myopathy with type I fibre hypotrophy and "fingerprint" inclusions associated with Marfan's syndrome.
The authors present results of histological and electron-microscopical investigations of muscular tissue obtained by biopsy from a 20-year-old man, who showed typical features of Marfan's syndrome associated with slowly progressive muscular weakness. The muscle showed a peculiar combination of centronuclear myopathy with hypotrophy of type I fibres and the so called "fingerprint myopathy". The combination of such myopathic phenomena with Marfan's syndrome presents a unique and hitherto undescribed condition.
D000328:Adult; D002467:Cell Nucleus / Q000648:ultrastructure*; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D008297:Male; D008382:Marfan Syndrome / Q000473:pathology*; D009123:Muscle Hypotonia / Q000473:pathology*; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000473:pathology