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From mutation to myotonia in sodium channel disorders

โœ Scribed by Stephen C Cannon


Book ID
117670680
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
328 KB
Volume
7
Category
Article
ISSN
0960-8966

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A novel muscle sodium channel mutation c
โœ Dr. Jeffrey Rosenfeld; Karen Sloan-Brown; Alfred L. George Jr ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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