Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation
Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation
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DOI：
10.1016/j.nmd.2005.02.004
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发表时间：
2005-05-01
影响因子：
2.8
通讯作者：
Zierz, S
中科院分区：
文献类型：
--
作者：
Müller, T;Krasnianski, M;Zierz, S
肢带型肌营养不良症LGMD21是由河豚毒素相关蛋白(FKRP)基因突变引起的。临床上，LGMD21表现出很大的表型变异，从严重的、快速进行性的四肢肌肉无力和消瘦到轻度疾病。在这里，我们提出了三个兄弟姐妹，没有临床症状的肌肉营养不良，但扩张型心肌病。血清肌酸激酶水平升高和MR1上肌肉部分脂肪变性提示骨骼肌亚临床受累。患者均为FKRP基因常见C826A突变纯合子。尽管临床上有典型的LGMD21患者心脏受累的报道，但到目前为止还没有作为FKRP突变的唯一临床表现的扩张型心肌病患者的报道。(C)2005 Elsevier B.V.保留所有权利。
Limb-girdle muscular dystrophy LGMD21 is caused by mutations in the fukutin-related protein (FKRP) gene. Clinically, LGMD21 exhibits a great phenotypic variability ranging from severe, rapidly progressive weakness and wasting of the limb-girdle muscles to mild disorders. Here, we present three siblings without clinical signs of muscle dystrophy, but with dilated cardiomyopathy. Elevated serum creatine kinase level and partial fatty degeneration of muscles on MR1 indicated subclinical involvement of skeletal muscles. The patients were homozygous for the common C826A mutation in the FKRP gene. Although cardiac involvement in patients with clinically typical LGMD21 was previously described, no patient with dilated cardiomyopathy as the only clinical manifestation of the FKRP mutation was reported so far. (c) 2005 Elsevier B.V. All rights reserved.