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

M. Mirabella, S. Servidei, G. Manfredi, E. Ricci, A. Frustaci, E. Bertini, M. Rana, P. Tonali

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)2342-2345
Number of pages4
JournalNeurology
Volume43
Issue number11
Publication statusPublished - Nov 1993

ASJC Scopus subject areas

  • Neuroscience(all)
  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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