CARDIOMYOPATHY MAY BE THE ONLY CLINICAL MANIFESTATION IN FEMALE CARRIERS OF DUCHENNE MUSCULAR-DYSTROPHY

Authors
MIRABELLA M SERVIDEI S MANFREDI G RICCI E FRUSTACI A BERTINI E RANA M TONALI P
Citation
M. Mirabella et al., CARDIOMYOPATHY MAY BE THE ONLY CLINICAL MANIFESTATION IN FEMALE CARRIERS OF DUCHENNE MUSCULAR-DYSTROPHY, Neurology, 43(11), 1993, pp. 2342-2345
Citations number
11
Categorie Soggetti
Clinical Neurology
Journal title
Neurology → ACNP
ISSN journal
00283878
Volume
43
Issue
11
Year of publication
1993
Pages
2342 - 2345
Database
ISI
SICI code
0028-3878(1993)43:11<2342:CMBTOC>2.0.ZU;2-0
Abstract
Cardiomyopathy was reported in a few Duchenne muscular dystrophy (DMD) carriers with clinical evidence of myopathy. We report two carriers w ith dilated cardiomyopathy, increased serum CK, and no symptoms of mus cle weakness. In heart biopsies of both patients, dystrophin-the prote in product of DMD locus-was absent in many fibers. Dilated cardiomyopa thy may be the only manifestation of dystrophin gene mutation in carri ers.