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The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain

Introduction and objectives: Arrhythmogenic cardiomyopathy (ACM) is a hereditary heart disease defined by the progressive replacement of the ventricular myocardium with fibroadipose tissue, which can act as a substrate for arrhythmias, sudden death, or even give rise to heart failure (HF). Sudden de...

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Detalles Bibliográficos
Autores principales: Robles-Mezcua, Ainhoa, Ruíz-Salas, Amalio, Medina-Palomo, Carmen, Robles-Mezcua, María, Díaz-Expósito, Arancha, Ortega-Jiménez, María Victoria, Gimeno-Blanes, Juan Ramón, Jiménez-Navarro, Manuel F., García-Pinilla, José Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379208/
https://www.ncbi.nlm.nih.gov/pubmed/37510372
http://dx.doi.org/10.3390/genes14071468