Article
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.
Circulation - 25 May 2004
Bellocq Chloé, van Ginneken Antoni C G, Bezzina Connie R, Alders Mariel, Escande Denis, Mannens Marcel M A M, Baró Isabelle, Wilde Arthur A M
Abstract excerpt
BACKGROUND: The electrocardiographic short QT-interval syndrome forms a distinct clinical entity presenting with a high rate of sudden death and exceptionally short QT intervals. The disorder has recently been linked to gain-of-function mutation in KCNH2. The present study demonstrates that this disorder is genetically heterogeneous and can also be caused by mutation in the KCNQ1 gene. METHODS AND RESULTS: A...
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