Skeletal muscle channelopathies |
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Authors: | Jurkat-Rott Karin Lerche Holger Lehmann-Horn Frank |
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Affiliation: | (1) Department of Applied Physiology, University of Ulm, 89069 Ulm, Germany, DE;(2) Department of Neurology, University of Ulm, 89069 Ulm, Germany, DE |
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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. Received: 30 April 2002, Accepted: 21 May 2002 Correspondence to F. Lehmann-Horn |
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Keywords: | ionchannels hereditary diseases sodium potassium calcium chloride |
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