心肌病可能是杜氏肌营养不良女性携带者的唯一临床表现。
Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy.
作者信息
Mirabella M, Servidei S, Manfredi G, Ricci E, Frustaci A, Bertini E, Rana M, Tonali P
机构信息
Department of Neurology, Catholic University of Rome, Italy.
出版信息
Neurology. 1993 Nov;43(11):2342-5. doi: 10.1212/wnl.43.11.2342.
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.
在一些有肌病临床证据的杜氏肌营养不良症（DMD）携带者中报告了心肌病。我们报告了两名患有扩张型心肌病、血清肌酸激酶（CK）升高且无肌无力症状的携带者。在两名患者的心脏活检中，许多纤维中缺乏肌营养不良蛋白——DMD基因座的蛋白质产物。扩张型心肌病可能是携带者中肌营养不良蛋白基因突变的唯一表现。
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