Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy

BACKGROUND: Variants in the emerin gene (EMD) were implicated in X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD), characterized by early-onset contractures of tendons, progressive muscular weakness and cardiomyopathy. To date, 223 mutations have been reported in EMD gene and the majority...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Mingqiu, Chen, Jia, Si, Dayong, Zheng, Yu, Jiao, Haixu, Feng, Zhaohui, Hu, Zhengmao, Duan, Ranhui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105140/
https://www.ncbi.nlm.nih.gov/pubmed/24997722
http://dx.doi.org/10.1186/1471-2350-15-77

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105140/
https://www.ncbi.nlm.nih.gov/pubmed/24997722
http://dx.doi.org/10.1186/1471-2350-15-77

Ejemplares similares