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

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spelling	doaj-97c411ccb10543aebdf8e9589f84be382020-11-25T03:44:06ZengHindawi LimitedCase Reports in Genetics2090-65442090-65522020-01-01202010.1155/2020/20717382071738A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular DystrophyXiafei Dai0Rong Luo1Yang Chen2Chenqing Zheng3Yibin Tang4Hongmei Zhang5Ye Su6Tao He7Xiaoping Li8School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610054, ChinaInstitute of Cardiovascular Disease, Chengdu Medical College, Chengdu, Sichuan 610500, ChinaSchool of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610054, ChinaShenzhen RealOmics (Biotech) Co., Ltd., Shenzhen 518081, ChinaDepartment of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, ChinaDepartment of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, ChinaSchool of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610054, ChinaSchool of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610054, ChinaSchool of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610054, ChinaThis 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.http://dx.doi.org/10.1155/2020/2071738
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Xiafei Dai Rong Luo Yang Chen Chenqing Zheng Yibin Tang Hongmei Zhang Ye Su Tao He Xiaoping Li
spellingShingle	Xiafei Dai Rong Luo Yang Chen Chenqing Zheng Yibin Tang Hongmei Zhang Ye Su Tao He Xiaoping Li A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy Case Reports in Genetics
author_facet	Xiafei Dai Rong Luo Yang Chen Chenqing Zheng Yibin Tang Hongmei Zhang Ye Su Tao He Xiaoping Li
author_sort	Xiafei Dai
title	A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy
title_short	A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy
title_full	A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy
title_fullStr	A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy
title_full_unstemmed	A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy
title_sort	novel emd mutation identified by whole-exome sequencing in twins with emery–dreifuss muscular dystrophy
publisher	Hindawi Limited
series	Case Reports in Genetics
issn	2090-6544 2090-6552
publishDate	2020-01-01
description	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.
url	http://dx.doi.org/10.1155/2020/2071738
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A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy

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