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 <i>MTM1</i> gene encoding the phosphoinositide phosphatase myot...

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Autores principales: Raquel Gómez-Oca, Belinda S. Cowling, Jocelyn Laporte
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
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Acceso en línea:https://doaj.org/article/08539916a47a4d8389490e8ecf59e350
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