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

doi:10.1016/j.rec.2022.08.002

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Article

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

Revista espanola de cardiologia (English ed.) - 1 May 2023

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

Abstract excerpt

INTRODUCTION AND OBJECTIVES: Missense mutations in the filamin C (FLNC) gene have been reported as cause of inherited cardiomyopathy. Knowledge of the pathogenicity and genotype-phenotype correlation remains scarce. Our aim was to describe a distinctive cardiac phenotype related to rare missense FLNC variants in the ROD2 domain. METHODS: We recruited 21 unrelated families genetically evaluated because of...

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Identifiers

PMID: 35952944
DOI: 10.1016/j.rec.2022.08.002

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