Xiafei Dai; Chenqing Zheng; Xuepin Chen; Yibin Tang; Hongmei Zhang; Chao Yan; Huihui Ma; Xiaoping Li
Human Genome Variation
2019;6(1):42 DOI:10.1038/s41439-019-0072-8
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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.
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