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 journal › Journal article › Research › peer-review
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 language | English |
|---|---|
| Journal | Circulation: Cardiovascular Genetics |
| Volume | 6 |
| Issue number | 5 |
| Pages (from-to) | 452-61 |
| Number of pages | 10 |
| ISSN | 1942-325X |
| DOIs | |
| Publication status | Published - Oct 2013 |
ID: 101010476