@misc{10498/24750,
year = {2021},
month = {2},
url = {http://hdl.handle.net/10498/24750},
abstract = {The RBM20 gene encodes the muscle-specific splicing factor RNA-binding motif 20, a regulator of heart-specific alternative splicing. Nearly 40 potentially deleterious variants in RBM20 have been reported in the last ten years, being found to be associated with highly arrhythmogenic events in familial dilated cardiomyopathy. Frequently, malignant arrhythmias can be a primary manifestation of disease. The early recognition of arrhythmic genotypes is crucial in avoiding lethal episodes, as it may have an impact on the adoption of personalized preventive measures. Our study performs a comprehensive update of data concerning rare variants in RBM20 that are associated with malignant arrhythmogenic phenotypes with a focus on personalized medicine.},
organization = {This work was supported by Obra Social "La Caixa Foundation" (LCF/PR/GN16/50290001 and LCF/PR/GN19/50320002), Fondo Investigacion Sanitaria (FIS PI16/01203 and FIS, PI17/01690) from Instituto Salud Carlos III (ISCIII), and "Fundacio Privada Daniel Bravo Andreu". CIBERCV is an initiative of the ISCIII, Spanish Ministry of Economy and Competitiveness.},
publisher = {MDPI},
keywords = {sudden cardiac death},
keywords = {arrhythmia},
keywords = {dilated cardiomyopathy},
keywords = {genetics},
keywords = {RBM20},
title = {Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach},
doi = {10.3390/jpm11020130},
author = {Jordà, Paloma and Toro Cebada, Rocío and Diez, Carles and Salazar-Mendiguchía, Joel and Fernandez-Falgueras, Anna and Perez-Serra, Alexandra and Coll, Monica and Puigmulé, Marta and Arbelo, Elena and García-Álvarez, Ana and Sarquella-Brugada, Georgia and Cesar, Sergi and Tiron, Coloma and Iglesias, Anna and Brugada, Josep and Brugada, Ramon and Campuzano, Oscar},
}