Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation

BACKGROUND: Sudden cardiac death (SCD) induced by malignant ventricular tachycardia (MVT) among young adults with right ventricular cardiomyopathy/dysplasia (ARVC/D) is a devastating event. Parts of ARVC/D patients have a mutation in genes encoding components of cardiac desmosomes, such as desmoglei...

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Detalles Bibliográficos
Autores principales: Lin, Yubi, Huang, Jiana, He, Siqi, Feng, Ruiling, Zhong, ZhiAn, Liu, Yang, Ye, Weitao, Li, Xin, Liao, Hongtao, Fei, Hongwen, Rao, Fang, Shan, Zhixin, Deng, Chunyu, Zhan, Xianzhang, Xue, Yumei, Liu, Hui, Zhang, Bin, Wang, Kejian, Zhang, Qianhuan, Wu, Shulin, Lin, Xiufang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102856/
https://www.ncbi.nlm.nih.gov/pubmed/30129429
http://dx.doi.org/10.1186/s12881-018-0580-2

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