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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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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author Chen, Xuepin
Peng, Hui
Zheng, Chenqing
Zhang, Hongmei
Yan, Chao
Ma, Huihui
Dai, Xiafei
Li, Xiaoping
author_facet Chen, Xuepin
Peng, Hui
Zheng, Chenqing
Zhang, Hongmei
Yan, Chao
Ma, Huihui
Dai, Xiafei
Li, Xiaoping
author_sort Chen, Xuepin
collection PubMed
description 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_001943.4:c.146G>A/p.(Arg49His)and NM_001943.3:c.1592T>G/p.(Phe531Cys). In family B, the proband carries a homozygous mutation NM_001943.3:c.1592T>G/p.(Phe531Cys).
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spelling pubmed-68046642019-10-23 Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2 Chen, Xuepin Peng, Hui Zheng, Chenqing Zhang, Hongmei Yan, Chao Ma, Huihui Dai, Xiafei Li, Xiaoping Hum Genome Var Data Report 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_001943.4:c.146G>A/p.(Arg49His)and NM_001943.3:c.1592T>G/p.(Phe531Cys). In family B, the proband carries a homozygous mutation NM_001943.3:c.1592T>G/p.(Phe531Cys). Nature Publishing Group UK 2019-08-21 /pmc/articles/PMC6804664/ /pubmed/31645976 http://dx.doi.org/10.1038/s41439-019-0069-3 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Chen, Xuepin
Peng, Hui
Zheng, Chenqing
Zhang, Hongmei
Yan, Chao
Ma, Huihui
Dai, Xiafei
Li, Xiaoping
Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2
title Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2
title_full Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2
title_fullStr Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2
title_full_unstemmed Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2
title_short Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2
title_sort two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with r49h and f531c mutation in dsg2
topic Data Report
url 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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