Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances

Centronuclear myopathies (CNM) are rare congenital disorders characterized by muscle weakness and structural defects including fiber hypotrophy and organelle mispositioning. The main CNM forms are caused by mutations in: the MTM1 gene encoding the phosphoinositide phosphatase myotubularin (myotubula...

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Detalles Bibliográficos
Autores principales: Gómez-Oca, Raquel, Cowling, Belinda S., Laporte, Jocelyn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8583656/
https://www.ncbi.nlm.nih.gov/pubmed/34768808
http://dx.doi.org/10.3390/ijms222111377

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8583656/
https://www.ncbi.nlm.nih.gov/pubmed/34768808
http://dx.doi.org/10.3390/ijms222111377

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