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

Research output: Contribution to journalJournal articleResearchpeer-review

Paula L Hedley, Jørgen K. Kanters, Maja Dembic, Thomas Jespersen, Lasse Skibsbye, Frederik H Aidt, Ole Eschen, Claus Graff, Elijah R Behr, Sarah Schlamowitz, Valerie Corfield, William J McKenna, Michael Christiansen

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.
Original languageEnglish
JournalCirculation: Cardiovascular Genetics
Volume6
Issue number5
Pages (from-to)452-61
Number of pages10
ISSN1942-325X
DOIs
Publication statusPublished - Oct 2013

ID: 101010476