一种新的 SCN4A 突变导致冷诱导肌强直，室温下肌电图检查正常。

A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature.

机构信息

Department of Neurology, UZ Brussel, Center for Neurosciences, Vrije universiteit Brussel (VUB), Brussels, Belgium.

出版信息

J Neurol Sci. 2011 Sep 15;308(1-2):162-4. doi: 10.1016/j.jns.2011.06.014. Epub 2011 Jul 14.

DOI:10.1016/j.jns.2011.06.014

Abstract

One family is described with a novel SCN4A mutation, causing cold-aggravated myotonia without weakness. One affected family member had a normal needle electromyography at room temperature. Myotonic discharges were only discovered after cooling of the tested muscles.

摘要

现描述一个具有新型 SCN4A 突变的家系，该突变可导致无肌无力的冷加重肌强直。一个受累家系成员在室温下进行常规针肌电图检查正常。只有在测试肌肉冷却后才发现肌强直放电。