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.

Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy / Mirabella, M.; Servidei, S.; Manfredi, G.; Ricci, E.; Frustaci, Andrea; Bertini, E.; Rana, M.; Tonali, P.. - In: NEUROLOGY. - ISSN 0028-3878. - 43:11(1993), pp. 2342-2345.

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

E. Ricci;FRUSTACI, ANDREA;
1993

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.
1993
01 Pubblicazione su rivista::01a Articolo in rivista
Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy / Mirabella, M.; Servidei, S.; Manfredi, G.; Ricci, E.; Frustaci, Andrea; Bertini, E.; Rana, M.; Tonali, P.. - In: NEUROLOGY. - ISSN 0028-3878. - 43:11(1993), pp. 2342-2345.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/78901
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