The identification of a novel splicing mutation in the DMD gene of a Chinese family

The proband is a five‐year‐old boy diagnosed with Duchenne muscular dystrophy (DMD) by clinical manifestations and laboratory examination, but clinical phenotype of his parents is normal. In the study, his mother had a second pregnancy, and they went to obstetrics for genetic counseling to make info...

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Detalles Bibliográficos
Autores principales: Liu, Wanlu, Shi, Xinwei, Li, Yuqi, Qiao, Fuyuan, Wu, Yuanyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8659554/
https://www.ncbi.nlm.nih.gov/pubmed/34938549
http://dx.doi.org/10.1002/ccr3.5166
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author Liu, Wanlu
Shi, Xinwei
Li, Yuqi
Qiao, Fuyuan
Wu, Yuanyuan
author_facet Liu, Wanlu
Shi, Xinwei
Li, Yuqi
Qiao, Fuyuan
Wu, Yuanyuan
author_sort Liu, Wanlu
collection PubMed
description The proband is a five‐year‐old boy diagnosed with Duchenne muscular dystrophy (DMD) by clinical manifestations and laboratory examination, but clinical phenotype of his parents is normal. In the study, his mother had a second pregnancy, and they went to obstetrics for genetic counseling to make informed reproductive choices.
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spelling pubmed-86595542021-12-21 The identification of a novel splicing mutation in the DMD gene of a Chinese family Liu, Wanlu Shi, Xinwei Li, Yuqi Qiao, Fuyuan Wu, Yuanyuan Clin Case Rep Case Report The proband is a five‐year‐old boy diagnosed with Duchenne muscular dystrophy (DMD) by clinical manifestations and laboratory examination, but clinical phenotype of his parents is normal. In the study, his mother had a second pregnancy, and they went to obstetrics for genetic counseling to make informed reproductive choices. John Wiley and Sons Inc. 2021-12-09 /pmc/articles/PMC8659554/ /pubmed/34938549 http://dx.doi.org/10.1002/ccr3.5166 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Liu, Wanlu
Shi, Xinwei
Li, Yuqi
Qiao, Fuyuan
Wu, Yuanyuan
The identification of a novel splicing mutation in the DMD gene of a Chinese family
title The identification of a novel splicing mutation in the DMD gene of a Chinese family
title_full The identification of a novel splicing mutation in the DMD gene of a Chinese family
title_fullStr The identification of a novel splicing mutation in the DMD gene of a Chinese family
title_full_unstemmed The identification of a novel splicing mutation in the DMD gene of a Chinese family
title_short The identification of a novel splicing mutation in the DMD gene of a Chinese family
title_sort identification of a novel splicing mutation in the dmd gene of a chinese family
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8659554/
https://www.ncbi.nlm.nih.gov/pubmed/34938549
http://dx.doi.org/10.1002/ccr3.5166
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