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Skeletal muscle channelopathies

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Abstract.

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.

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Received: 30 April 2002, Accepted: 21 May 2002

Correspondence to F. Lehmann-Horn

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Jurkat-Rott, K., Lerche, H. & Lehmann-Horn, F. Skeletal muscle channelopathies. J Neurol 249, 1493–1502 (2002). https://doi.org/10.1007/s00415-002-0871-5

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  • DOI: https://doi.org/10.1007/s00415-002-0871-5

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