Cannon S C
Department of Neurobiology, Harvard Medical School, Massachusetts General Hospital, Boston 02114, USA.
Neuromuscul Disord. 1997 Jun;7(4):241-9. doi: 10.1016/s0960-8966(97)00430-6.
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.
高钾性周期性麻痹、先天性副肌强直症以及钾加重性肌强直症均由在骨骼肌中选择性表达的钠通道α亚基的点突变引起。本综述更新了这些突变的基因型-表型相关性的不断增加的列表，并总结了它们所产生的通道功能改变。一种基于毒素的体外模型表明，钠通道失活的细微缺陷足以导致肌强直，计算机建模表明特定类型的失活缺陷可能易患麻痹或肌强直。
