Natural history of a mouse model of X-linked myotubular myopathy

Abstract excerpt

X-linked myotubular myopathy is a severe monogenetic disorder of the skeletal muscle caused by loss of expression/function mutations in the MTM1 (myotubularin) gene. There is a growing understanding of the pathologic and molecular abnormalities associated with loss of MTM1, and emerging therapeutic strategies that are in the process of translation to patients. Much of these data have been uncovered through experi...

Topics

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• Disease Models, Animal
• Disease Progression
• Mice
• Mice, Knockout
• Muscle, Skeletal
• Myopathies, Structural, Congenital
• Phenotype
• Protein Tyrosine Phosphatases, Non-Receptor

Identifiers and source

Literature Corpus work

cb943dcf-eef0-5878-8c58-26942c8ba58f

DOI

10.1101/2021.10.11.463940