A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy-Reference-Cited by-同舟云学术

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

Published:2020-08-24 Issue: Volume:2020 Page:1-7
ISSN:2090-6544
Container-title:Case Reports in Genetics
language:en
Short-container-title:Case Reports in Genetics

Author:

Dai Xiafei¹²,Luo Rong³,Chen Yang¹²,Zheng Chenqing⁴,Tang Yibin²,Zhang Hongmei²,Su Ye¹²,He Tao¹²,Li Xiaoping¹²^ORCID

Affiliation:

1. School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610054, China

2. Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, China

3. Institute of Cardiovascular Disease, Chengdu Medical College, Chengdu, Sichuan 610500, China

4. Shenzhen RealOmics (Biotech) Co., Ltd., Shenzhen 518081, China

Abstract

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.

Funder

National Natural Science Foundation of China

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://downloads.hindawi.com/journals/crig/2020/2071738.pdf

Reference21 articles.

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