摘要
骨骼肌离子通道病是由于肌膜离子通道功能异常所导致的一组疾病,临床症状波动较大,不同离子通道病表现型有重叠。文章就其基因突变、临床表现、电生理诊断和治疗进行总结。
Summary:Skeletal muscle channelopaths refer to the disorders produced by abnormal ion channel function. These diseases are characterized by episodic failure of motor activity due to muscle weakness or stiffness. How ev- er, in some of these disorders, the clinical phenotypes overlap. In this article, the clinical features, genic mutation, fuctional electrophysiologieal aspects and treatment of this expanding group of muscle voltage-gated ionic channelopathies are reviewed.
出处
《中国实用内科杂志》
CAS
CSCD
北大核心
2011年第2期84-86,共3页
Chinese Journal of Practical Internal Medicine
关键词
骨骼肌离子通道病
基因突变
skeletal muscle channelopathies
genic mutation