Dystrophin analysis in idiopathic dilated cardiomyopathy

Virginia V. Michels, Gregory M. Pastores, Patricia P. Moll, David J. Driscoll, Fletcher A. Miller, John C. Burnett, Richard J. Rodeheffer, Jamil A. Tajik, Alan H. Beggs, Louis M. Kunkel, Stephen N. Thibodeau

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Idiopathic dilated cardiomyopathy (DCM) is characterised by ventricular dilatation and impaired systolic function resulting in congestive heart failure and frequently death. A dilated cardiomyopathy is common in patients with symptomatic Duchenne/Becker muscular dystrophy, a disease caused by dystrophin gene defects. However, cardiomyopathy is rarely the predominant clinical feature of this form of muscular dystrophy. To determine whether dystrophin gene defects might account for a significant number of patients with apparently isolated idiopathic DCM, we performed dystrophin gene analysis in 27 DCM patients, who were ascertained as part of a prospective study on idiopathic DCM. No dystrophin gene defects were found in our patients, whose average age was 50 years. These data suggest that dystrophin defects are not a common cause of idiopathic DCM in this age group in the absence of skeletal muscle cramps or weakness.

Original languageEnglish (US)
Pages (from-to)955-957
Number of pages3
JournalJournal of medical genetics
Issue number11
StatePublished - 1993

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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