RT Journal Article
SR Electronic
T1 Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 2342
OP 2342
DO 10.1212/WNL.43.11.2342
VO 43
IS 11
A1 M. Mirabella
A1 S. Servidei
A1 G. Manfredi
A1 E. Ricci
A1 A. Frustaci
A1 E. Bertini
A1 M. Rana
A1 P. Tonali
YR 1993
UL http://n.neurology.org/content/43/11/2342.abstract
AB 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.