| Literature DB >> 12420087 |
Karin Jurkat-Rott1, Holger Lerche, Frank Lehmann-Horn.
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.Entities:
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Year: 2002 PMID： 12420087 DOI： 10.1007/s00415-002-0871-5
Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849