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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...

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Detalles Bibliográficos
Publicado en:ERJ Open Res
Autores principales: Tan, Hui-leng, Chan, Elaine
Formato: Artigo
Lenguaje:Inglês
Publicado: European Respiratory Society 2021
Materias:
Acceso en línea: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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