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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

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.
OriginalsprogEngelsk
TidsskriftCirculation: Cardiovascular Genetics
Vol/bind6
Udgave nummer5
Sider (fra-til)452-61
Antal sider10
ISSN1942-325X
DOI
StatusUdgivet - okt. 2013

ID: 101010476