Article
The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.
Circulation. Cardiovascular genetics - 1 Oct 2013
Hedley Paula L, Kanters Jørgen K, Dembic Maja, Jespersen Thomas, Skibsbye Lasse, Aidt Frederik H, Eschen Ole, Graff Claus, Behr Elijah R, Schlamowitz Sarah, Corfield Valerie, McKenna William J, Christiansen Michael
Abstract excerpt
BACKGROUND: Mutations in CAV3, coding for caveolin-3, the major constituent scaffolding protein of cardiac caveolae, have been associated with skeletal muscle disease, cardiomyopathy, and most recently long-QT syndrome (LQTS) and sudden infant death syndrome. We examined the occurrence of CAV3 mu...
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