Centronuclear myopathy with type I fibre hypotrophy and "fingerprint" inclusions associated with Marfan's syndrome

J Neurol Sci. 1980 Feb;45(1):43-56. doi: 10.1016/s0022-510x(80)80005-0.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cell Nucleus / ultrastructure*
  • Humans
  • Inclusion Bodies / ultrastructure*
  • Male
  • Marfan Syndrome / pathology*
  • Muscle Hypotonia / pathology*
  • Muscles / pathology
  • Muscular Atrophy / pathology