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