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
  • Kanters, Jørgen K.
  • Maja Dembic
  • Jespersen, Thomas
  • 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
Issue number5
Pages (from-to)452-61
Number of pages10
Publication statusPublished - Oct 2013

ID: 101010476