Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Academic Article uri icon

Overview

abstract

  • Cardiomyopathy was reported in a few Duchenne muscular dystrophy (DMD) carriers with clinical evidence of myopathy. We report two carriers with dilated cardiomyopathy, increased serum CK, and no symptoms of muscle weakness. In heart biopsies of both patients, dystrophin-the protein product of DMD locus--was absent in many fibers. Dilated cardiomyopathy may be the only manifestation of dystrophin gene mutation in carriers.

publication date

  • November 1, 1993

Research

keywords

  • Cardiomyopathy, Dilated
  • Dystrophin
  • Heterozygote
  • Muscular Dystrophies

Identity

Scopus Document Identifier

  • 0027374166

Digital Object Identifier (DOI)

  • 10.1212/wnl.43.11.2342

PubMed ID

  • 8232953

Additional Document Info

volume

  • 43

issue

  • 11