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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
European Respiratory Society
2021-03-01
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| Series: | ERJ Open Research |
| Online Access: | http://openres.ersjournals.com/content/7/1/00641-2020.full |