[Correlation of cardiac muscle involvement and the dystrophin gene abnormality in Becker muscular dystrophy]

Nihon Rinsho. 1997 Dec;55(12):3142-7.
[Article in Japanese]

Abstract

Cardiomyopathy is one of the most important clinical manifestations in Becker muscular dystrophy (BMD), but the severity of cardiac involvement is not usually related to that of skeletal muscle disability in this disease. In general, BMD patients who carry the mutations in the 5' end of the dystrophin gene tend to show severe cardiac dysfunction compared with skeletal myopathy, and these mutations may be responsible for more selective involvement of dystrophin appearance in the myocardium. In this article, we review the causative relationship of the variable clinical pictures and the dystrophin gene abnormalities in BMD patients, focusing on the severity of cardiac disorder.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Cardiomyopathy, Dilated / etiology*
  • Cardiomyopathy, Dilated / genetics
  • Dystrophin / genetics*
  • Exons / genetics
  • Female
  • Gene Deletion
  • Gene Expression Regulation
  • Humans
  • Male
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / genetics*
  • Point Mutation
  • Severity of Illness Index
  • X Chromosome

Substances

  • Dystrophin