Article
Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.
Clinical genetics - 1 Feb 2000
Larsen L A, Svendsen I H, Jensen A M, Kanters J K, Andersen P S, Møller M, Sørensen S A, Sandøe E, Jacobsen J R, Vuust J, Christiansen M
Abstract excerpt
In a four-generation family with long QT syndrome, syncopes and torsades de pointes ventricular tachycardia (TdP) were elicited by abrupt awakening in the early morning hours. The syndrome was associated with a novel KCNH2 missense mutation, G572R, causing the substitution of a glycine residue at position 572, at the end of the S5 transmembrane segment of the HERG K(+)-channel, with an arginine residue. This...
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