A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy
Joint Authors
He, Tao
Zhang, Hongmei
Chen, Yang
Dai, Xiafei
Zheng, Chenqing
Tang, Yibin
Su, Ye
Li, Xiaoping
Luo, Rong
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-08-24
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Dai, Xiafei& Luo, Rong& Chen, Yang& Zheng, Chenqing& Tang, Yibin& Zhang, Hongmei…[et al.]. 2020. A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy. Case Reports in Genetics،Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1147241
Modern Language Association (MLA)
Dai, Xiafei…[et al.]. A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy. Case Reports in Genetics No. 2020 (2020), pp.1-7.
https://search.emarefa.net/detail/BIM-1147241
American Medical Association (AMA)
Dai, Xiafei& Luo, Rong& Chen, Yang& Zheng, Chenqing& Tang, Yibin& Zhang, Hongmei…[et al.]. A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy. Case Reports in Genetics. 2020. Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1147241
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147241
