Cargando…
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family
| Autores principales: | , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Nature Singapore
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9873553/ https://www.ncbi.nlm.nih.gov/pubmed/36217027 http://dx.doi.org/10.1038/s10038-022-01085-2 |
| _version_ | 1784877622675636224 |
|---|---|
| author | Ahmad, Ilyas Khan, Ayaz Noor Ul Ayan, Hafiza Budde, Birgit Altmüller, Janine Korejo, Asad Aslam Nürnberg, Gudrun Thiele, Holger Tariq, Muhmmad Nürnberg, Peter Erdmann, Jeanette |
| author_facet | Ahmad, Ilyas Khan, Ayaz Noor Ul Ayan, Hafiza Budde, Birgit Altmüller, Janine Korejo, Asad Aslam Nürnberg, Gudrun Thiele, Holger Tariq, Muhmmad Nürnberg, Peter Erdmann, Jeanette |
| author_sort | Ahmad, Ilyas |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-9873553 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Springer Nature Singapore |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-98735532023-01-26 A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family Ahmad, Ilyas Khan, Ayaz Noor Ul Ayan, Hafiza Budde, Birgit Altmüller, Janine Korejo, Asad Aslam Nürnberg, Gudrun Thiele, Holger Tariq, Muhmmad Nürnberg, Peter Erdmann, Jeanette J Hum Genet Correspondence Springer Nature Singapore 2022-10-11 2023 /pmc/articles/PMC9873553/ /pubmed/36217027 http://dx.doi.org/10.1038/s10038-022-01085-2 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Correspondence Ahmad, Ilyas Khan, Ayaz Noor Ul Ayan, Hafiza Budde, Birgit Altmüller, Janine Korejo, Asad Aslam Nürnberg, Gudrun Thiele, Holger Tariq, Muhmmad Nürnberg, Peter Erdmann, Jeanette A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family |
| title | A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family |
| title_full | A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family |
| title_fullStr | A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family |
| title_full_unstemmed | A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family |
| title_short | A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family |
| title_sort | novel map3k20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a pakistani family |
| topic | Correspondence |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9873553/ https://www.ncbi.nlm.nih.gov/pubmed/36217027 http://dx.doi.org/10.1038/s10038-022-01085-2 |
| work_keys_str_mv | AT ahmadilyas anovelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT khanayaz anovelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT noorulayanhafiza anovelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT buddebirgit anovelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT altmullerjanine anovelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT korejoasadaslam anovelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT nurnberggudrun anovelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT thieleholger anovelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT tariqmuhmmad anovelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT nurnbergpeter anovelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT erdmannjeanette anovelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT ahmadilyas novelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT khanayaz novelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT noorulayanhafiza novelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT buddebirgit novelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT altmullerjanine novelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT korejoasadaslam novelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT nurnberggudrun novelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT thieleholger novelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT tariqmuhmmad novelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT nurnbergpeter novelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily AT erdmannjeanette novelmap3k20mutationcausingcentronuclearmyopathy6withfibertypedisproportioninapakistanifamily |