Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy.
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.
Mirabella
M
M
Department of Neurology, Catholic University of Rome, Italy.
Servidei
S
S
Manfredi
G
G
Ricci
E
E
Frustaci
A
A
Bertini
E
E
Rana
M
M
Tonali
P
P
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
D016189:Dystrophin