Title : Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.

Pub. Date : 1994 Jun

PMID : 8005599






1 Functional Relationships(s)
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1 Eighteen German families with a history of paramyotonia congenita (PC) were characterised by genetic and mutational analysis at the SCN4A locus, which encodes the alpha-subunit of the adult skeletal muscle sodium channel. Sodium sodium voltage-gated channel alpha subunit 4 Homo sapiens