From mutation to myotonia in sodium channel disorders
From mutation to myotonia in sodium channel disorders
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DOI：
10.1016/s0960-8966(97)00430-6
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发表时间：
1997-06-01
影响因子：
2.8
通讯作者：
Cannon, SC
中科院分区：
文献类型：
--
作者：
Cannon, SC
高钾性周期性麻痹、先天性副肌强直和钾加重的肌强直都是由骨骼肌中选择性表达的钠通道α亚单位的点突变引起的。这篇综述更新了这些突变的基因型-表型相关性的不断增长的列表，并总结了它们产生的通道功能的改变。基于毒素的体外模型表明，钠通道失活的细微缺陷足以引起肌强直，计算机建模表明，特定类型的失活缺陷可能易患瘫痪或肌强直。(C)1997年Elsevier Science B.V.
Hyperkalemic periodic paralysis, paramyotonia congenita, and the potassium-aggravated myotonias are all caused by point mutations in the alpha-subunit of a sodium channel expressed selectively in skeletal muscle. This review updates the growing list of genotype-phenotype correlations for these mutations and summarizes the alterations in channel function they produce. A toxin-based in vitro model demonstrates that subtle defects in sodium channel inactivation are sufficient to cause myotonia and computer modeling suggests that specific types of inactivation defect may predispose to paralysis or myotonia. (C) 1997 Elsevier Science B.V.