Familial myopathy associated with Marfanoid features and multicores

Aust N Z J Med. 1984 Aug;14(4):495-9. doi: 10.1111/j.1445-5994.1984.tb03626.x.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Humans
  • Male
  • Marfan Syndrome / genetics*
  • Marfan Syndrome / pathology
  • Middle Aged
  • Muscles / pathology*
  • Muscular Diseases / enzymology
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology