We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia.
- Authors
Tan, Bi-Hua; Iturralde-Torres, Pedro; Medeiros-Domingo, Argelia; Nava, Santiago; Tester, David J; Valdivia, Carmen R; Tusié-Luna, Teresa; Ackerman, Michael J; Makielski, Jonathan C
- Abstract
Individual mutations in the SCN5A-encoding cardiac sodium channel alpha-subunit cause single cardiac arrhythmia disorders, but a few cause multiple distinct disorders. Here we report a family harboring an SCN5A mutation (L1821fs/10) causing a truncation of the C-terminus with a marked and complex biophysical phenotype and a corresponding variable and complex clinical phenotype with variable penetrance.
- Publication
Cardiovascular research, 2007, Vol 76, Issue 3, p409
- ISSN
1755-3245
- Publication type
Journal Article
- DOI
10.1016/j.cardiores.2007.08.006