Late onset painful cold-aggravated myotonia: Three families with SCN4A L1436P mutation
Late onset painful cold-aggravated myotonia: Three families with SCN4A L1436P mutation
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DOI：
10.1016/j.nmd.2011.05.006
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发表时间：
2011-08-01
影响因子：
2.8
通讯作者：
De Keyser, Jacques
中科院分区：
文献类型：
--
作者：
Bissay, Veronique;Keymolen, Kathelijn;De Keyser, Jacques
我们描述了三个SCN4A基因L1436P突变的比利时家系，导致具有非典型临床表现的钠通道肌强直，其特征是晚发型疼痛寒性加重肌强直。这些家族代表了钠通道肌强直谱系中的一种独特的表型。(C)2011爱思唯尔B.V.保留所有权利。
We describe three Belgian families with a L1436P mutation in the SCN4A gene, causing a sodium channel myotonia with an atypical clinical presentation, characterized by late onset painful cold-aggravated myotonia. These families represent a distinct phenotype within the spectrum of sodium channel myotonia. (C) 2011 Elsevier B.V. All rights reserved.