Articles with "mechanisms centronuclear" as a keyword



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

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Published in 2021 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms222111377

Abstract: 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… read more here.

Keywords: gene encoding; mechanisms centronuclear; pathogenic mechanisms; cnm ... See more keywords