A publication of the Brazilian Society of Cardiology
Frank Nunes
, Raquel Germer Toja Couto
, Diane Xavier de Avila
, Ana Flavia Malheiros Torbey
, Kárila Scarduelli Luciano
, [...]
Frank Nunes
, Raquel Germer Toja Couto
, Diane Xavier de Avila
, Ana Flavia Malheiros Torbey
, Kárila Scarduelli Luciano
, [...]
Abstract Filamin C is an essential protein for the integrity of the sarcomere and cytoskeleton of cardiomyocytes. Pathogenic variants in the FLNC gene are associated with a wide range of cardiomyopathies and may present distinct phenotypes depending on the type of genetic alteration. Truncated variants are frequently associated with dilated and arrhythmogenic cardiomyopathy, while missense variants are more related to hypertrophic and restrictive forms. These phenotypic differences reflect the molecular and structural impact of the FLNC variant on filamin C […]
Keywords: Cardiomyopathies; Filamins; Sudden Cardiac Death