Article
[Familial hyperkalemic periodic paralysis: a brief review of the adult human skeletal muscle sodium channel and the application of LA-PCR to the SCN4A gene analysis].
Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1997
Sakoda S, Nakagawa M, Arimura Y, Arimura K, Osame M
Abstract excerpt
Recent work has revealed that familial hyperkalemic periodic paralysis, paramyotonia congenita and other non-dystrophic myotonias result from point mutations in the gene encoding the alpha-subunit of the adult human skeletal muscle sodium channel (SCN4A). Sodium channel myotonias are a diverse group of skeletal muscle disorders that share a common pathophysiological mechanism: all are caused by impaired rapid...
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