Article
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.
American journal of human genetics - 1 Sept 2002
Andelfinger Gregor, Tapper Andrew R, Welch Richard C, Vanoye Carlos G, George Alfred L, Benson D Woodrow
Abstract excerpt
Evaluation of candidate loci culminated in the identification of a heterozygous missense mutation (R67W) in KCNJ2, the gene encoding the inward-rectifying potassium current, Kir2.1, in 41 members of a kindred in which ventricular arrhythmias (13 of 16 female members [81%]) and periodic paralysis (10 of 25 male members [40%]) segregated as autosomal dominant traits with sex-specific variable expressivity. Some...
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