Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy

Neurology. 1993 Nov;43(11):2342-5. doi: 10.1212/wnl.43.11.2342.


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 types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / pathology
  • Dystrophin / analysis*
  • Female
  • Heterozygote*
  • Humans
  • Middle Aged
  • Muscles / chemistry
  • Muscles / pathology
  • Muscular Dystrophies / genetics*
  • Myocardium / chemistry
  • Myocardium / pathology


  • Dystrophin