Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2

Arrhythmogenic right ventricular cardiomyopathy (ARVC) presents as the progressive fibrofatty replacement of the cardiomyocytes particularly in the right ventricular wall. Here, we report two cases with ARVC. In family A, the proband carries a Desmoglein2 (DSG2) gene complex heterozygous mutation NM...

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Detalles Bibliográficos
Autores principales: Chen, Xuepin, Peng, Hui, Zheng, Chenqing, Zhang, Hongmei, Yan, Chao, Ma, Huihui, Dai, Xiafei, Li, Xiaoping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804664/
https://www.ncbi.nlm.nih.gov/pubmed/31645976
http://dx.doi.org/10.1038/s41439-019-0069-3

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