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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...
Uloženo v:
| Vydáno v: | ERJ Open Res |
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| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
European Respiratory Society
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7983207/ https://ncbi.nlm.nih.gov/pubmed/33778049 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1183/23120541.00641-2020 |
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