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MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy
Centronuclear and myotubular myopathies (CNM) are rare and severe genetic diseases associated with muscle weakness and atrophy as well as intracellular disorganization of myofibres. The main mutated proteins control lipid and membrane dynamics and are the lipid phosphatase myotubularin (MTM1), and t...
Autores principales: | Giraud, Quentin, Spiegelhalter, Coralie, Messaddeq, Nadia, Laporte, Jocelyn |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545525/ https://www.ncbi.nlm.nih.gov/pubmed/37490306 http://dx.doi.org/10.1093/brain/awad251 |
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