Cargando…
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...
Autores principales: | Gómez-Oca, Raquel, Cowling, Belinda S., Laporte, Jocelyn |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
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 |
Ejemplares similares
-
Centronuclear (myotubular) myopathy
por: Jungbluth, Heinz, et al.
Publicado: (2008) -
Centronuclear myopathies under attack: A plethora of therapeutic targets
por: Tasfaout, Hichem, et al.
Publicado: (2018) -
Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
por: Koch, Catherine, et al.
Publicado: (2020) -
Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy
por: Gómez-Oca, Raquel, et al.
Publicado: (2022) -
Pathogenic Mechanisms in Centronuclear Myopathies
por: Jungbluth, Heinz, et al.
Publicado: (2014)