Dystrophin analysis in idiopathic dilated cardiomyopathy

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

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

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
Volume30
Issue number11
StatePublished - 1993

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Dystrophin
Dilated Cardiomyopathy
Genes
Muscle Cramp
Duchenne Muscular Dystrophy
Muscular Dystrophies
Muscle Weakness
Cardiomyopathies
Dilatation
Skeletal Muscle
Heart Failure
Age Groups
Prospective Studies

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Dystrophin analysis in idiopathic dilated cardiomyopathy. / Michels, Virginia V.; Pastores, Gregory M.; Moll, Patricia P.; Driscoll, David J.; Miller, Fletcher A Jr.; Burnett, John C Jr.; Rodeheffer, Richard J.; Tajik, Jamil A.; Beggs, Alan H.; Kunkel, Louis M.; Thibodeau, Stephen N.

In: Journal of Medical Genetics, Vol. 30, No. 11, 1993, p. 955-957.

Research output: Contribution to journalArticle

Michels, VV, Pastores, GM, Moll, PP, Driscoll, DJ, Miller, FAJ, Burnett, JCJ, Rodeheffer, RJ, Tajik, JA, Beggs, AH, Kunkel, LM & Thibodeau, SN 1993, 'Dystrophin analysis in idiopathic dilated cardiomyopathy', Journal of Medical Genetics, vol. 30, no. 11, pp. 955-957.
Michels VV, Pastores GM, Moll PP, Driscoll DJ, Miller FAJ, Burnett JCJ et al. Dystrophin analysis in idiopathic dilated cardiomyopathy. Journal of Medical Genetics. 1993;30(11):955-957.
Michels, Virginia V. ; Pastores, Gregory M. ; Moll, Patricia P. ; Driscoll, David J. ; Miller, Fletcher A Jr. ; Burnett, John C Jr. ; Rodeheffer, Richard J. ; Tajik, Jamil A. ; Beggs, Alan H. ; Kunkel, Louis M. ; Thibodeau, Stephen N. / Dystrophin analysis in idiopathic dilated cardiomyopathy. In: Journal of Medical Genetics. 1993 ; Vol. 30, No. 11. pp. 955-957.
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AU - Rodeheffer, Richard J.

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