A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy. (24th August 2020)

• Record Type: Journal Article
• Authors: Dai, Xiafei; Luo, Rong; Chen, Yang; Zheng, Chenqing; Tang, Yibin; Zhang, Hongmei; Su, Ye; He, Tao; Li, Xiaoping
• Other Names: Suri Mohnish Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2020(2020)
• Publication Date: 2020-08-24
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2020/2071738
• Languages: English
• ISSNs: 2090-6544

Abstract

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.