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Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134552/ https://www.ncbi.nlm.nih.gov/pubmed/30208955 http://dx.doi.org/10.1186/s40478-018-0593-2 |
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| author | Biancalana, Valérie Romero, Norma B. Thuestad, Inger Johanne Ignatius, Jaakko Kataja, Janne Gardberg, Maria Héron, Delphine Malfatti, Edoardo Oldfors, Anders Laporte, Jocelyn |
| author_facet | Biancalana, Valérie Romero, Norma B. Thuestad, Inger Johanne Ignatius, Jaakko Kataja, Janne Gardberg, Maria Héron, Delphine Malfatti, Edoardo Oldfors, Anders Laporte, Jocelyn |
| author_sort | Biancalana, Valérie |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-6134552 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2018 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-61345522018-09-13 Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy Biancalana, Valérie Romero, Norma B. Thuestad, Inger Johanne Ignatius, Jaakko Kataja, Janne Gardberg, Maria Héron, Delphine Malfatti, Edoardo Oldfors, Anders Laporte, Jocelyn Acta Neuropathol Commun Letter to the Editor BioMed Central 2018-09-12 /pmc/articles/PMC6134552/ /pubmed/30208955 http://dx.doi.org/10.1186/s40478-018-0593-2 Text en © The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided 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 Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
| spellingShingle | Letter to the Editor Biancalana, Valérie Romero, Norma B. Thuestad, Inger Johanne Ignatius, Jaakko Kataja, Janne Gardberg, Maria Héron, Delphine Malfatti, Edoardo Oldfors, Anders Laporte, Jocelyn Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy |
| title | Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy |
| title_full | Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy |
| title_fullStr | Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy |
| title_full_unstemmed | Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy |
| title_short | Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy |
| title_sort | some dnm2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy |
| topic | Letter to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134552/ https://www.ncbi.nlm.nih.gov/pubmed/30208955 http://dx.doi.org/10.1186/s40478-018-0593-2 |
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