@article{bc60d0f70ec24713b0e6bdacdbd6f3dd,
title = "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",
abstract = "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 mutations in a large cohort of patients with LQTS.",
author = "Hedley, {Paula L} and Kanters, {J{\o}rgen K.} and Maja Dembic and Thomas Jespersen and Lasse Skibsbye and Aidt, {Frederik H} and Ole Eschen and Claus Graff and Behr, {Elijah R} and Sarah Schlamowitz and Valerie Corfield and McKenna, {William J} and Michael Christiansen",
year = "2013",
month = oct,
doi = "10.1161/CIRCGENETICS.113.000137",
language = "English",
volume = "6",
pages = "452--61",
journal = "Circulation: Cardiovascular Genetics",
issn = "1942-325X",
publisher = "Lippincott Williams & Wilkins",
number = "5",
}