title: Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy.
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.
authors.affiliation: Department of Neurology, Catholic University of Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Mirabella
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: G
authors.initials: G
authors.lastname: Manfredi
authors.forename: E
authors.initials: E
authors.lastname: Ricci
authors.forename: A
authors.initials: A
authors.lastname: Frustaci
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: M
authors.initials: M
authors.lastname: Rana
authors.forename: P
authors.initials: P
authors.lastname: Tonali
mesh_terms: D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000473:pathology; D016189:Dystrophin / Q000032:analysis*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009132:Muscles / Q000737:chemistry / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics*; D009206:Myocardium / Q000737:chemistry / Q000473:pathology
chemical_list: D016189:Dystrophin