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Review
. 2002 Nov;249(11):1493-502.
doi: 10.1007/s00415-002-0871-5.

Skeletal muscle channelopathies

Karin Jurkat-Rott  1 , Holger Lerche, Frank Lehmann-Horn
Affiliations
Review

Skeletal muscle channelopathies

Karin Jurkat-Rott et al. J Neurol. 2002 Nov.

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(+), Ca(2+), and Cl(-) channels leading to hypoexcitability, causing periodic paralysis and to hyperexcitabilty, resulting in myotonia or susceptibility to malignant hyperthermia.

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