Pre-aged remodelling of myofibrillar cytoarchitecture in skeletal muscle expressing R349P mutant desmin

The majority of hereditary and acquired myopathies are clinically characterized by progressive muscle weakness. We hypothesized that ongoing derangement of skeletal muscle cytoarchitecture at the single fiber level may precede and be responsible for the progressive muscle weakness. Here, we analysed the effects of aging in wild-type and heterozygous and homozygous R349P desmin knock-in mice. The latter harbor the orthologue of the most frequently encountered human R350P desmin missense mutation.📍


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