期刊文献+

骨骼肌离子通道病研究现状和进展 被引量:2

Progress in skeletal muscle channelopathies
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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
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参考文献10

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共引文献7

同被引文献10

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