Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype
Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype. We evaluated FLNC variants in arrhythmogenic cardiomyopathy (ACM) and investigated the disease mechanism at a molecular level.
Source: International Journal of Cardiology - Category: Cardiology Authors: Charlotte L. Hall, Mohammed M. Akhtar, Maria Sabater-Molina, Marta Futema, Angeliki Asimaki, Alexandros Protonotarios, Chrysoula Dalageorgou, Alan M. Pittman, Mari Paz Suarez, Beatriz Aguilera, Pilar Molina, Esther Zorio, Juan Pedro Hern ández, Francisco Source Type: research