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Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7323478/ https://www.ncbi.nlm.nih.gov/pubmed/32637634 http://dx.doi.org/10.1212/NXG.0000000000000458 |
| _version_ | 1783551777961934848 |
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| author | Mihaylova, Violeta Chablais, Fabian Herenger, Yvan Spiegel, Roland Heinrich Jung, Hans |
| author_facet | Mihaylova, Violeta Chablais, Fabian Herenger, Yvan Spiegel, Roland Heinrich Jung, Hans |
| author_sort | Mihaylova, Violeta |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-7323478 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | Wolters Kluwer |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-73234782020-07-06 Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient Mihaylova, Violeta Chablais, Fabian Herenger, Yvan Spiegel, Roland Heinrich Jung, Hans Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2020-06-09 /pmc/articles/PMC7323478/ /pubmed/32637634 http://dx.doi.org/10.1212/NXG.0000000000000458 Text en Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work, provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| spellingShingle | Clinical/Scientific Notes Mihaylova, Violeta Chablais, Fabian Herenger, Yvan Spiegel, Roland Heinrich Jung, Hans Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient |
| title | Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient |
| title_full | Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient |
| title_fullStr | Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient |
| title_full_unstemmed | Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient |
| title_short | Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient |
| title_sort | novel truncating mutations of myo18b causing congenital myopathy in a swiss patient |
| topic | Clinical/Scientific Notes |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7323478/ https://www.ncbi.nlm.nih.gov/pubmed/32637634 http://dx.doi.org/10.1212/NXG.0000000000000458 |
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