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A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy
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.
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463389/ https://www.ncbi.nlm.nih.gov/pubmed/32908726 http://dx.doi.org/10.1155/2020/2071738 |
| _version_ | 1783577120694337536 |
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| author | Dai, Xiafei Luo, Rong Chen, Yang Zheng, Chenqing Tang, Yibin Zhang, Hongmei Su, Ye He, Tao Li, Xiaoping |
| author_facet | Dai, Xiafei Luo, Rong Chen, Yang Zheng, Chenqing Tang, Yibin Zhang, Hongmei Su, Ye He, Tao Li, Xiaoping |
| author_sort | Dai, Xiafei |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-7463389 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | Hindawi |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-74633892020-09-08 A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy Dai, Xiafei Luo, Rong Chen, Yang Zheng, Chenqing Tang, Yibin Zhang, Hongmei Su, Ye He, Tao Li, Xiaoping Case Rep Genet Case Report 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. Hindawi 2020-08-24 /pmc/articles/PMC7463389/ /pubmed/32908726 http://dx.doi.org/10.1155/2020/2071738 Text en Copyright © 2020 Xiafei Dai et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Case Report Dai, Xiafei Luo, Rong Chen, Yang Zheng, Chenqing Tang, Yibin Zhang, Hongmei Su, Ye He, Tao Li, Xiaoping A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy |
| title | A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy |
| title_full | A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy |
| title_fullStr | A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy |
| title_full_unstemmed | A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy |
| title_short | A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy |
| title_sort | novel emd mutation identified by whole-exome sequencing in twins with emery–dreifuss muscular dystrophy |
| topic | Case Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463389/ https://www.ncbi.nlm.nih.gov/pubmed/32908726 http://dx.doi.org/10.1155/2020/2071738 |
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