A novel EMD mutation identified by whole-exome sequencing in twins with Emery–Dreifuss muscular dystrophy

 Xiafei Dai; Rong Luo; Yang Chen; Chenqing Zheng; Yibin Tang; Hongmei Zhang; Ye Su; Tao He; Xiaoping Li

 Case Reports in Genetics 2020;2020:1-7 DOI:10.1155/2020/2071738

This case reports a novel hemizygous frameshiftEMDmutation (c.487delA, p.Ser163fs) in twins of an Emery–Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutation.

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