Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked recessive disease characterized by the clinical triad of early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death. Targeted next-generation sequencing was performed for a Chi...

Descripción completa

Detalles Bibliográficos
Autores principales: Dai, Xiafei, Zheng, Chenqing, Chen, Xuepin, Tang, Yibin, Zhang, Hongmei, Yan, Chao, Ma, Huihui, Li, Xiaoping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804839/
https://www.ncbi.nlm.nih.gov/pubmed/31645980
http://dx.doi.org/10.1038/s41439-019-0072-8
_version_ 1783461276496691200
author Dai, Xiafei
Zheng, Chenqing
Chen, Xuepin
Tang, Yibin
Zhang, Hongmei
Yan, Chao
Ma, Huihui
Li, Xiaoping
author_facet Dai, Xiafei
Zheng, Chenqing
Chen, Xuepin
Tang, Yibin
Zhang, Hongmei
Yan, Chao
Ma, Huihui
Li, Xiaoping
author_sort Dai, Xiafei
collection PubMed
description Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked recessive disease characterized by the clinical triad of early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death. Targeted next-generation sequencing was performed for a Chinese patient with EDMD and the previously reported mutation [NM_000117.2: c.251_255del (p.Leu84Profs*7)] in exon 3 of the emerin gene (EMD) was identified.
format Online
Article
Text
id pubmed-6804839
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-68048392019-10-23 Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy Dai, Xiafei Zheng, Chenqing Chen, Xuepin Tang, Yibin Zhang, Hongmei Yan, Chao Ma, Huihui Li, Xiaoping Hum Genome Var Data Report Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked recessive disease characterized by the clinical triad of early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death. Targeted next-generation sequencing was performed for a Chinese patient with EDMD and the previously reported mutation [NM_000117.2: c.251_255del (p.Leu84Profs*7)] in exon 3 of the emerin gene (EMD) was identified. Nature Publishing Group UK 2019-09-03 /pmc/articles/PMC6804839/ /pubmed/31645980 http://dx.doi.org/10.1038/s41439-019-0072-8 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Dai, Xiafei
Zheng, Chenqing
Chen, Xuepin
Tang, Yibin
Zhang, Hongmei
Yan, Chao
Ma, Huihui
Li, Xiaoping
Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy
title Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy
title_full Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy
title_fullStr Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy
title_full_unstemmed Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy
title_short Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy
title_sort targeted next-generation sequencing identified a known emd mutation in a chinese patient with emery-dreifuss muscular dystrophy
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804839/
https://www.ncbi.nlm.nih.gov/pubmed/31645980
http://dx.doi.org/10.1038/s41439-019-0072-8
work_keys_str_mv AT daixiafei targetednextgenerationsequencingidentifiedaknownemdmutationinachinesepatientwithemerydreifussmusculardystrophy
AT zhengchenqing targetednextgenerationsequencingidentifiedaknownemdmutationinachinesepatientwithemerydreifussmusculardystrophy
AT chenxuepin targetednextgenerationsequencingidentifiedaknownemdmutationinachinesepatientwithemerydreifussmusculardystrophy
AT tangyibin targetednextgenerationsequencingidentifiedaknownemdmutationinachinesepatientwithemerydreifussmusculardystrophy
AT zhanghongmei targetednextgenerationsequencingidentifiedaknownemdmutationinachinesepatientwithemerydreifussmusculardystrophy
AT yanchao targetednextgenerationsequencingidentifiedaknownemdmutationinachinesepatientwithemerydreifussmusculardystrophy
AT mahuihui targetednextgenerationsequencingidentifiedaknownemdmutationinachinesepatientwithemerydreifussmusculardystrophy
AT lixiaoping targetednextgenerationsequencingidentifiedaknownemdmutationinachinesepatientwithemerydreifussmusculardystrophy

Ejemplares similares