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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...

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Detalles Bibliográficos
Autores principales: Giraud, Quentin, Spiegelhalter, Coralie, Messaddeq, Nadia, Laporte, Jocelyn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
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