Article
Sodium Channelopathies of Skeletal Muscle.
Handbook of experimental pharmacology - 1 Jan 2018
Cannon Stephen C
Abstract excerpt
The NaV1.4 sodium channel is highly expressed in skeletal muscle, where it carries almost all of the inward Na+ current that generates the action potential, but is not present at significant levels in other tissues. Consequently, mutations of SCN4A encoding NaV1.4 produce pure skeletal muscle phenotypes that now include six allelic disorders: sodium channel myotonia, paramyotonia congenita, hyperkalemic periodic...
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