Journal
INTERNATIONAL JOURNAL OF CARDIOLOGY
Volume 137, Issue 1, Pages 83-85Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.ijcard.2008.05.050
Keywords
Short QT syndrome; Brugada syndrome; KCNH2; Mutation; Sudden death
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In a 34-year-old man showing short QT interval (QTc 329 ms), we identified a novel C-terminal KCNH2 mutation, R1135H. Using a heterologous expression system with CHO cells, the mutant channels were found to display a significantly slow deactivation, which resulted in a gain-of-function for reconstituted 'I(Kr)' channels. This mutation could modify clinical phenotypes for this patient. (C) 2008 Elsevier Ireland Ltd. All rights reserved.
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