Article
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
Journal of the American College of Cardiology - 6 Dec 2016
Ortiz-Genga Martín F, Cuenca Sofía, Dal Ferro Matteo, Zorio Esther, Salgado-Aranda Ricardo, Climent Vicente, Padrón-Barthe Laura, Duro-Aguado Iria, Jiménez-Jáimez Juan, Hidalgo-Olivares Víctor M, García-Campo Enrique, Lanzillo Chiara, Suárez-Mier M Paz, Yonath Hagith, Marcos-Alonso Sonia, Ochoa Juan P, Santomé José L, García-Giustiniani Diego, Rodríguez-Garrido Jorge L, Domínguez Fernando, Merlo Marco, Palomino Julián, Peña María L, Trujillo Juan P, Martín-Vila Alicia, Stolfo Davide, Molina Pilar, Lara-Pezzi Enrique, Calvo-Iglesias Francisco E, Nof Eyal, Calò Leonardo, Barriales-Villa Roberto, Gimeno-Blanes Juan R, Arad Michael, García-Pavía Pablo, Monserrat Lorenzo
Abstract excerpt
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study...
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