Article
Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.
FEBS letters - 9 Apr 1999
Wang D W, VanDeCarr D, Ruben P C, George A L, Bennett P B
Abstract excerpt
An unusual form of painful congenital myotonia is associated with a novel SCN4A mutation causing a valine to methionine substitution in the domain 1/S6 segment of the skeletal muscle sodium channel. We studied the functional characteristics of this mutant allele using a recombinant channel to gain understanding about the nature of the biophysical defect responsible for this unique phenotype. When expressed...
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