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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...

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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

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