Skeletal muscle channelopathies

被引:90
作者
Jurkat-Rott, K
Lerche, H
Lehmann-Horn, F [1 ]
机构
[1] Univ Ulm, Dept Appl Physiol, D-89069 Ulm, Germany
[2] Univ Ulm, Dept Neurol, D-89069 Ulm, Germany
关键词
ionchannels; hereditary diseases; sodium; potassium; calcium chloride;
D O I
10.1007/s00415-002-0871-5
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Ion channelopathies have common clinical features, recurrent patterns of mutations, and almost predictable mechanisms of pathogenesis. In skeletal muscle, disorders are associated with mutations in voltage-gated Na+, K+, Ca2+, and Cl- channels leading to hypoexcitability, causing periodic paralysis and to hyperexcitabilty, resulting in myotonia or susceptibility to malignant hyperthermia.
引用
收藏
页码:1493 / 1502
页数:10
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