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.