Becker muscular dystrophy caused by exon 2-truncating mutation of DMD

Nonsense and frameshift mutations of the dystrophin (DMD) gene usually cause severe Duchenne muscular dystrophy (DMD). Interestingly, however, premature stop codons in exons 1 and 2 result in relatively mild Becker muscular dystrophy (BMD). Herein, we report the clinical course of a patient with a v...

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Autores principales: Ikeda, Tetsuhiko, Fujinaka, Hidehiko, Goto, Kiyoe, Nakajima, Takashi, Ozawa, Tetsuo
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/PMC6859157/
https://www.ncbi.nlm.nih.gov/pubmed/31754439
http://dx.doi.org/10.1038/s41439-019-0083-5
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author Ikeda, Tetsuhiko
Fujinaka, Hidehiko
Goto, Kiyoe
Nakajima, Takashi
Ozawa, Tetsuo
author_facet Ikeda, Tetsuhiko
Fujinaka, Hidehiko
Goto, Kiyoe
Nakajima, Takashi
Ozawa, Tetsuo
author_sort Ikeda, Tetsuhiko
collection PubMed
description Nonsense and frameshift mutations of the dystrophin (DMD) gene usually cause severe Duchenne muscular dystrophy (DMD). Interestingly, however, premature stop codons in exons 1 and 2 result in relatively mild Becker muscular dystrophy (BMD). Herein, we report the clinical course of a patient with a very mild phenotype of BMD caused by a frameshift mutation, NM_004006.2: c.40_41del GA/p.(Glu14ArgfsX17), in exon 2 of the DMD gene.
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spelling pubmed-68591572019-11-21 Becker muscular dystrophy caused by exon 2-truncating mutation of DMD Ikeda, Tetsuhiko Fujinaka, Hidehiko Goto, Kiyoe Nakajima, Takashi Ozawa, Tetsuo Hum Genome Var Data Report Nonsense and frameshift mutations of the dystrophin (DMD) gene usually cause severe Duchenne muscular dystrophy (DMD). Interestingly, however, premature stop codons in exons 1 and 2 result in relatively mild Becker muscular dystrophy (BMD). Herein, we report the clinical course of a patient with a very mild phenotype of BMD caused by a frameshift mutation, NM_004006.2: c.40_41del GA/p.(Glu14ArgfsX17), in exon 2 of the DMD gene. Nature Publishing Group UK 2019-11-18 /pmc/articles/PMC6859157/ /pubmed/31754439 http://dx.doi.org/10.1038/s41439-019-0083-5 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
Ikeda, Tetsuhiko
Fujinaka, Hidehiko
Goto, Kiyoe
Nakajima, Takashi
Ozawa, Tetsuo
Becker muscular dystrophy caused by exon 2-truncating mutation of DMD
title Becker muscular dystrophy caused by exon 2-truncating mutation of DMD
title_full Becker muscular dystrophy caused by exon 2-truncating mutation of DMD
title_fullStr Becker muscular dystrophy caused by exon 2-truncating mutation of DMD
title_full_unstemmed Becker muscular dystrophy caused by exon 2-truncating mutation of DMD
title_short Becker muscular dystrophy caused by exon 2-truncating mutation of DMD
title_sort becker muscular dystrophy caused by exon 2-truncating mutation of dmd
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859157/
https://www.ncbi.nlm.nih.gov/pubmed/31754439
http://dx.doi.org/10.1038/s41439-019-0083-5
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