Jurkat-Rott Karin, Lerche Holger, Lehmann-Horn Frank
Department of Applied Physiology, University of Ulm, 89069 Ulm, Germany.
J Neurol. 2002 Nov;249(11):1493-502. doi: 10.1007/s00415-002-0871-5.
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(+), Ca(2+), and Cl(-) channels leading to hypoexcitability, causing periodic paralysis and to hyperexcitabilty, resulting in myotonia or susceptibility to malignant hyperthermia.
离子通道病具有共同的临床特征、反复出现的突变模式以及几乎可预测的发病机制。在骨骼肌中，疾病与电压门控钠（Na⁺）、钾（K⁺）、钙（Ca²⁺）和氯（Cl⁻）通道的突变有关，这些突变导致兴奋性降低，引起周期性麻痹，以及兴奋性过高，导致肌强直或对恶性高热易感。
