Title : A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies.

Pub. Date : 2019

PMID : 31609695






1 Functional Relationships(s)
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1 BACKGROUND: The phenotypic spectrum of the skeletal muscle voltage-gated sodium channel gene (SCN4A) mutations has been expanding dramatically with advancements in genetic testing. Sodium sodium voltage-gated channel alpha subunit 4 Homo sapiens