Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion

Genetic variants that result in truncation in desmoplakin (DSP) are a known cause of arrhythmogenic cardiomyopathy (AC). In homozygous carriers, the combined involvement of skin and heart muscle is well defined, however, this is not the case in heterozygous carriers. The aim of this work is to descr...

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Detalles Bibliográficos
Autores principales: Cabrera-Borrego, Eva, Montero-Vilchez, Trinidad, Bermúdez-Jiménez, Francisco José, Tercedor-Sánchez, Jesús, Tercedor-Sánchez, Luis, Sánchez-Díaz, Manuel, Macías-Ruiz, Rosa, Molina-Jiménez, María, Cañizares-García, Francisco Javier, Fernández-Segura, Eduardo, Fernandez-Flores, Angel, Arias-Santiago, Salvador, Jiménez-Jáimez, Juan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8509745/
https://www.ncbi.nlm.nih.gov/pubmed/34640625
http://dx.doi.org/10.3390/jcm10194608

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8509745/
https://www.ncbi.nlm.nih.gov/pubmed/34640625
http://dx.doi.org/10.3390/jcm10194608

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