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 |
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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