TY  - GEN 
AU  - Bermúdez-Jiménez, Francisco José
AU  - Carriel Araya, Víctor
AU  - Santos-Mateo, Juan José
AU  - Fernández, Adrián
AU  - García-Hernández, Soledad
AU  - Analía Ramos, Karina
AU  - Piqueras-Flores, Jesús
AU  - Cabrera-Romero, Eva
AU  - Barriales-Villa, Roberto
AU  - de la Higuera Romero, Luis
AU  - Alcalá López, Juan Emilio
AU  - Gimeno Blanes, Juan Ramón
AU  - Sánchez Porras, David
AU  - Campos Sánchez, Fernando
AU  - Alaminos Mingorance, Miguel
AU  - Oyonarte-Ramírez, José Manuel
AU  - Álvarez, Miguel
AU  - Tercedor, Luis
AU  - Brodehl, Andreas
AU  - Jiménez Jáimez, Juan
PY  - 2023
UR  - https://hdl.handle.net/10481/107267
AB  - 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...
LA  - eng
KW  - Filamins  Cardiomyopathies
KW  - Cardiomyopathy  Restrictive
KW  - Cardiomyopathies  Hypertrophic
KW  - Filamin   C
KW  - Saw-tooth   myocardium
TI  - ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium
T2  - Las mutaciones missense en el dominio ROD2 de la filamina C muestran un fenotipo con miocardiopatía restrictiva/hipertrófica y miocardio en dientes de sierra
DO  - 10.1016/j.rec.2022.08.002
ER  -