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Respiratory care in myotubular myopathy
X-linked myotubular myopathy is a neuromuscular condition caused by pathogenic variants in the MTM1 gene, which encodes for myotubularin, a phosphatidylinositol 3-phosphate phosphatase. Affected individuals typically require intensive medical intervention to survive, though there are some milder phe...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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European Respiratory Society
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7983207/ https://www.ncbi.nlm.nih.gov/pubmed/33778049 http://dx.doi.org/10.1183/23120541.00641-2020 |