A new study shows that lamin mutant worms display muscle-specific defects linked to altered subnuclear localization of heterochromatin, leading to altered gene expression.
To examine whether dmpk−/− mice display muscle insulin resistance, we first measured insulin-stimulated glucose transport in cardiac and skeletal muscle.
Dmpk−/− mice display muscle weakness and heart disease [22], [23], Six5−/− mice display cataracts and heart disease [24], [25] and Mbnl1−/− mice display skeletal myotonia, muscle weakness, cataracts and possibly heart disease [15].
CMT2D patients display muscle weakness and axonal degeneration (27).
In C. elegans, klf-3 mutants display muscle detachment phenotypes (Plenefisch et al. 2000).
Through a forward genetic screen in mice, we identified a mutation in which heterozygous mutant mice display muscle weakness.
Also transgenic mice overexpressing IGF-1 selectively in muscle cells display muscle hypertrophy (Coleman et al., 1995; Musaro et al., 2001).
Naf1-null mice display muscle weakness and markedly decreased strength, accompanied by increased autophagy, dysregulation of calcium homeostasis and enlarged mitochondria (Chang et al., 2012).
More significantly, these mice display muscle metabolism conversion from the anaerobic pathway, typically utilized in fast muscle fibers, to the oxidative aerobic pathway, which is generally seen in slow muscle fibers [ 58].
We present a 6-year-old girl with premature aging associated with mild myopathy, displaying muscle weakness, joint contractures and hyporeflexia.
