Skeletal muscle channelopathies
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- Jurkat-Rott, K., Lerche, H. & Lehmann-Horn, F. J Neurol (2002) 249: 1493. doi:10.1007/s00415-002-0871-5
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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.