Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation
Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation
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DOI：
10.1016/j.jns.2011.04.022
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发表时间：
2011-08-15
影响因子：
4.4
通讯作者：
Kim, Dae-Seong
中科院分区：
文献类型：
--
作者：
Kim, Sun-Young;Park, Young-Eun;Kim, Dae-Seong
一名二十岁男性，自幼出现弥漫性四肢肌无力和劳力性呼吸困难。线状肌病的诊断是根据肌肉病理学结果做出的，该结果在光学和电子显微镜下显示了线状肌棒，并且在 ACTA1 中发现了新的突变 E239K。顺便说一下，超声心动图显示该患者患有肥厚型心肌病（HCM）。在线状肌病中，已报道了几例 HCM 病例，尽管很少且总是致命的，但只有一名患者患有 ACTA1 突变。本报告描述了一种婴儿期发病的线状肌病，与之前的病例相比，其临床病程较轻，且非致命性 HCM，显示出与 ACTA] 突变相关的疾病的骨骼和心脏表现的临床多样性。 (C) 2011 Elsevier B.V. 保留所有权利。
A twenty-year old male presented with diffuse limb muscle weakness and exertional dyspnea since childhood. The diagnosis of nemaline myopathy was given based on the muscle pathology findings that revealed nemaline rods on light and electron microscopy and discovery of a novel mutation, E239K, in ACTA1. Incidentally, the patient had hypertrophic cardiomyopathy (HCM) as shown by echocardiography. In nemaline myopathy, a few cases of HCM have been reported, albeit rarely and always fatal, but only one patient had ACTA1 mutation. This present report describes an infantile onset of nemaline myopathy with a milder clinical course and non-fatal HCM as compared with previous cases, showing clinical diversity in skeletal and cardiac manifestations of conditions associated with ACTA] mutations. (C) 2011 Elsevier B.V. All rights reserved.