A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy

This case reports a novel hemizygous frameshift EMD 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.

Bibliographic Details
Main Authors: Xiafei Dai, Rong Luo, Yang Chen, Chenqing Zheng, Yibin Tang, Hongmei Zhang, Ye Su, Tao He, Xiaoping Li
Format: Article
Language:English
Published: Hindawi Limited 2020-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2020/2071738
Description
Summary:This case reports a novel hemizygous frameshift EMD 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.
ISSN:2090-6544
2090-6552

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