Article
Genomic organization of the human skeletal muscle sodium channel gene.
Genomics - 1 Mar 1993
George A L, Iyer G S, Kleinfield R, Kallen R G, Barchi R L
Abstract excerpt
Voltage-dependent sodium channels are essential for normal membrane excitability and contractility in adult skeletal muscle. The gene encoding the principal sodium channel alpha-subunit isoform in human skeletal muscle (SCN4A) has recently been shown to harbor point mutations in certain hereditary forms of periodic paralysis. We have carried out an analysis of the detailed structure of this gene including...
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