ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium.

Francisco José Bermúdez-Jiménez,Víctor Carriel,Juan José Santos-Mateo,Adrián Fernández,Soledad García-Hernández, Karina Analía Ramos,Jesús Piqueras-Flores, Eva Cabrera-Romero,Roberto Barriales-Villa,Luis de la Higuera Romero, Juan Emilio Alcalá López,Juan Ramón Gimeno Blanes,David Sánchez-Porras,Fernando Campos,Miguel Alaminos, José Manuel Oyonarte-Ramírez,Miguel Álvarez,Luis Tercedor,Andreas Brodehl,Juan Jiménez-Jáimez

Revista Española de Cardiología (English Edition)（2023）

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摘要

FLNC-mRod2 variants show a high prevalence of an overlapped phenotype comprising RCM, HCM and deep hypertrabeculation with saw-tooth appearance and distinctive cardiac histopathological remodeling.

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关键词

Cardiomiopatía Hipertrófica,Cardiomiopatía restrictiva,Cardiomyopathies,Cardiomyopathy,Filamin C,Filamina C,Filaminas,Filamins,Hypertrophic,Miocardio en dientes de sierra,Miocardiopatía,Restrictive,Saw-tooth myocardium

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