Article
Role of Titin Missense Variants in Dilated Cardiomyopathy.
Journal of the American Heart Association - 13 Nov 2015
Begay Rene L, Graw Sharon, Sinagra Gianfranco, Merlo Marco, Slavov Dobromir, Gowan Katherine, Jones Kenneth L, Barbati Giulia, Spezzacatene Anita, Brun Francesca, Di Lenarda Andrea, Smith John E, Granzier Henk L, Mestroni Luisa, Taylor Matthew
Abstract excerpt
BACKGROUND: The titin gene (TTN) encodes the largest human protein, which plays a central role in sarcomere organization and passive myocyte stiffness. TTN truncating mutations cause dilated cardiomyopathy (DCM); however, the role of TTN missense variants in DCM has been difficult to elucidate because of the presence of background TTN variation. METHODS AND RESULTS: A cohort of 147 DCM index subjects underwent...
Topics
- Adult
- Cardiomyopathy, Dilated
- Computational Biology
- Connectin
- DNA Mutational Analysis
- Disease-Free Survival
- Female
- Gene Frequency
- Genetic Association Studies
- Genetic Predisposition to Disease