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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Chen, Xuepin, Peng, Hui, Zheng, Chenqing, Zhang, Hongmei, Yan, Chao, Ma, Huihui, Dai, Xiafei, Li, Xiaoping
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6804664/
https://ncbi.nlm.nih.gov/pubmed/31645976
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0069-3
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