Dilated cardiomyopathy and the dystrophin gene: an illustrated review.
Dilated cardiomyopathy and the dystrophin gene: an illustrated review.
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扩张型心肌病和肌营养不良蛋白基因：图文并茂的综述。
DOI：
10.1136/hrt.72.4.344
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发表时间：
1994
影响因子：
--
通讯作者：
J. Wahlström
中科院分区：
文献类型：
--
作者：
A. Oldfors;B. Eriksson;M. Kyllerman;T. Martinsson;J. Wahlström
心肌病常见于杜氏肌营养不良症和贝克尔肌营养不良症患者，这是由肌营养不良蛋白基因突变引起的 X 连锁肌肉疾病。肌营养不良蛋白缺陷以多种不同的方式存在，轻度贝克型肌营养不良症病例已被描述为严重的心肌病。杜氏肌营养不良症的女性携带者可单独出现症状性骨骼肌病或合并扩张型心肌病。他们也可能单独发展为扩张型心肌病。已发现 X 连锁扩张型心肌病与肌营养不良蛋白缺陷有关。分子缺陷与心脏表型之间的关系尚未确定。抗肌营养不良蛋白基因的新突变很常见，这种突变导致三分之一的杜氏肌营养不良症和贝克尔肌营养不良症病例。这意味着由肌营养不良蛋白缺陷引起的心肌病很可能是散发性的。本文报道了一名 14 岁男孩死于扩张型心肌病的案例。在他去世前一个月进行的心脏检查之前，他没有抱怨肌肉无力。他有轻微的肢带肌病症状，血清肌酸激酶浓度略有升高。人们发现他的抗肌营养不良蛋白基因存在异常缺失。
Cardiomyopathy is often found in patients with Duchenne and Becker muscular dystrophy, which are X linked muscle diseases caused by mutations in the dystrophin gene. Dystrophin defects present in many different ways and cases of mild Becker muscular dystrophy have been described in which cardiomyopathy was severe. Female carriers of Duchenne muscular dystrophy can develop symptomatic skeletal myopathy alone or combined with dilated cardiomyopathy. They can also develop dilated cardiomyopathy alone. X linked dilated cardiomyopathy has been found in association with dystrophin defects. The relation between the molecular defects and the cardiac phenotypes has not yet been established. New mutations in the dystrophin gene are common and such mutations cause one third of the cases with Duchenne and Becker muscular dystrophy. This means that sporadic cases of cardiomyopathy caused by dystrophin defects are likely. This paper reports such a case in a boy of 14 who died of dilated cardiomyopathy. Before the cardiac investigation, which was performed one month before he died, he had not complained of muscular weakness. He had minor signs of limb girdle myopathy and slightly increased concentrations of serum creatine kinase. He was found to have an unusual deletion in the dystrophin gene.
影响因子：
158.5
作者：
BERKO, BA;SWIFT, M
通讯作者：
SWIFT, M