The skeletal muscle channelopathies: basic science, clinical genetics and treatment

被引：15

作者：

Davies, NP ^{[1
]}

Hanna, MG ^{[1
]}

机构：

[1] Inst Neurol, Muscle & Neurogenet Sect, London WC1N 3BG, England

来源：

CURRENT OPINION IN NEUROLOGY | 2001年 / 14卷 / 05期

关键词：

D O I：

10.1097/00019052-200110000-00001

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The human neurological channelopathies are a rapidly expanding group of mainly genetic conditions that are characterized by dysfunction of membrane-bound glycoproteins (ion channels). The skeletal muscle channelopathies were the first to be characterized in this group. In recent years significant progress has been made in our understanding of the molecular genetic and cellular electrophysiological bases of these disorders. DNA-based diagnosis is now a reality for many of the channelopathies. The advances made have implications for both genetic counselling and for tailoring treatment to specific channelopathies. Curr Opin Neurol 14:539-551. (C) 2001 Lippincott Williams & Wilkins.

引用

页码：539 / 551

页数：13

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