Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy,Human Genome Variation

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Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-09-03 , DOI: 10.1038/s41439-019-0072-8
Xiafei Dai , Chenqing Zheng , Xuepin Chen , Yibin Tang , Hongmei Zhang , Chao Yan , Huihui Ma , Xiaoping Li

Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked recessive disease characterized by the clinical triad of early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death. Targeted next-generation sequencing was performed for a Chinese patient with EDMD and the previously reported mutation [NM_000117.2: c.251_255del (p.Leu84Profs*7)] in exon 3 of the emerin gene (EMD) was identified.

更新日期：2019-09-03

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