Title : Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

Pub. Date : 2001 Jun

PMID : 11353725






1 Functional Relationships(s)
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1 Some remarkable clinical features were observed in a large hypoPP family carrying an SCN4A mutation: a complete penetrance in men and women, an early age at onset, postcritic myalgias and an increased number and severity of attacks induced by acetazolamide. Acetazolamide calcium voltage-gated channel subunit alpha1 S Homo sapiens