Dystrophin negative skeletal and myocardial muscle cells in a carrier of Duchenne's muscular dystrophy

Eur Heart J. 1993 Jul;14(7):989-92. doi: 10.1093/eurheartj/14.7.989.

Abstract

A 47-year-old woman whose elder son had typical Duchenne's muscular dystrophy (DMD) was diagnosed as the manifesting carrier of the disease. She had developed congestive heart failure but had no evidence of skeletal muscular atrophy. Histological observation of the cardiac muscle revealed a mosaic pattern of dystrophin negative fibres detected by immunofluorescence analysis.

Publication types

  • Case Reports

MeSH terms

  • Cardiac Output, Low / etiology
  • Dystrophin / analysis*
  • Female
  • Heterozygote*
  • Humans
  • Immunohistochemistry
  • Middle Aged
  • Muscles / chemistry
  • Muscles / pathology*
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / metabolism
  • Muscular Dystrophies / pathology*
  • Myocardium / chemistry
  • Myocardium / pathology*

Substances

  • Dystrophin