A novel muscle sodium channel mutation c
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Dr. Jeffrey Rosenfeld; Karen Sloan-Brown; Alfred L. George Jr
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Article
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1997
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John Wiley and Sons
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English
โ 424 KB
Mutations in the skeletal muscle voltage-gated sodium channel alpha-subunit gene (SCN4A) have been associated with a spectrum of inherited nondystrophic myotonias and periodic paralyses. Most disease-associated SCN4A alleles occur in portions of the gene that encode the third and fourth repeat domai