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

Author:

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

Funder

Universidad de Granada

Ruhr-Universität Bochum

Publisher

Elsevier BV

Subject

General Medicine

Reference31 articles.

1. FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations;Ader;Clin Genet.,2019

2. Myozenin: An α-actinin- and γ-filamin-binding protein of skeletal muscle Z lines;Takada;Proc Natl Acad Sci U S A.,2001

3. Myofibrillar myopathies;Selcen,2013

4. Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy;Brodehl;Hum Mutat.,2016

5. Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy;Tucker;Circ Cardiovasc Genet.,2017

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