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）

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摘要

This case reports a novel hemizygous frameshift mutation (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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