Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1
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DOI：
10.1016/j.nmd.2010.01.011
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发表时间：
2010-04-01
影响因子：
2.8
通讯作者：
Vajsar, Jiri
中科院分区：
文献类型：
--
作者：
Hung, Ryan M.;Yoon, Grace;Vajsar, Jiri
帽状肌病是一种先天性肌病，在肌膜下有帽状结构。TPM2和TPM3基因突变在帽型肌病中已有报道。我们报告了一个新生儿持续的深度虚弱，需要胃空肠管喂养，气管造口术和终身通气，直到他5岁死亡。5周龄时的肌肉活检无相关信息。4.5年复查活检显示位于肌结节下的帽对α -肌动蛋白、肌动蛋白和一定程度上的desmin免疫阳性。电镜显示细丝排列松散，粗丝较少。ACTA1基因的分子分析鉴定出一种新的Met47Val突变。除了一个新的ACTA1基因突变外，我们的病例强调了帽型肌病的遗传异质性及其与ACTA1基因的关联，以及对未确诊的肌肉无力患者进行重复肌肉活检的重要性。(C) 2010 Elsevier B.V.版权所有
Cap myopathy is a congenital myopathy with cap-like structures under the sarcolemma. Mutations in TPM2 and TPM3 genes have been reported in cap myopathy so far.We report a newborn boy with persistent profound weakness who required gastro-jejunal tube feeding, tracheostomy and life-long ventilation until he died at 5 years of age. Muscle biopsy at 5 weeks of age was uninformative. Repeat biopsy at 4.5 years revealed subsarcolemmally located caps that were immunopositive for alpha-actinin, actin and to some extent, desmin. EM confirmed loosely arranged thin filaments and paucity of thick filaments. Molecular analysis of ACTA1 gene identified a novel de novo Met47Val mutation.In addition to a new ACTA 1 gene mutation, our case emphasizes the genetic heterogeneity of cap myopathy and its association with ACTA1 gene as well as the importance of repeat muscle biopsy in patients with undiagnosed muscle weakness. (C) 2010 Elsevier B.V. All rights reserved.