Article
Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy.
BMC medical genetics - 5 Jul 2014
Zhang Mingqiu, Chen Jia, Si Dayong, Zheng Yu, Jiao Haixu, Feng Zhaohui, Hu Zhengmao, Duan Ranhui
Abstract excerpt
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 of them caused a predominant skeletal muscular phenotype. In this study, we identified a novel deletion mutation in...
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