Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
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DOI：
10.1016/j.nmd.2007.06.467
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发表时间：
2007-12-01
影响因子：
2.8
通讯作者：
Laporte, Jocelyn
中科院分区：
文献类型：
--
作者：
Echaniz-Laguna, Andoni;Nicot, Anne-Sophie;Laporte, Jocelyn
动力蛋白 2 (DNM2) 是一种普遍表达的大 GTP 酶，其突变会导致常染色体显性遗传性中心核肌病 (DNM2-CNM) 和 AD 夏科-马里-图思病 2B 型 (DNM2-CMT2B)。我们报告了来自同一家庭的 5 名患者，他们均患有显性中心核肌病、轻度认知障碍、轻度轴突周围神经受累以及 DNM2 基因中的新 E368Q 突变。这项研究表明，dynamin 2 相关的中心核肌病和夏科-马里-图思病的表型重叠，并且 DNM2 突变可能会改变大脑功能。该报告扩展了 DNM2 中心核肌病的临床知识，并表明 DNM2 突变在中枢神经系统中的作用应进一步研究。 (C) 2007 Elsevier B.V. 保留所有权利。
Mutations in dynamin 2 (DNM2), an ubiquitously-expressed large GTPase, cause autosomal dominant centronuclear myopathy (DNM2-CNM) and AD Charcot-Marie-Tooth disease type 2B (DNM2-CMT2B). We report a series of 5 patients from the same family who all presented with dominant centronuclear myopathy, mild cognitive impairment, mild axonal peripheral nerve involvement, and the novel E368Q mutation in the DNM2 gene. This study suggests that the phenotypes of dynamin 2 related centronuclear myopathy and Charcot-Marie-Tooth disease overlap and that DNM2 mutations may alter cerebral function. This report extends the clinical knowledge of DNM2-centronuclear myopathy and shows that the role of DNM2 mutations in the central nervous system should be further studied. (C) 2007 Elsevier B.V. All rights reserved.