A missense mutation (C667F) in beta-dystroglycan results in reduced dystroglycan protein levels leading to myopathy and destabilization of the blood-brain and blood-retinal barrier protein network.

A recent preprint study discusses a missense mutation in the beta-dystroglycan gene that leads to reduced levels of dystroglycan protein, resulting in myopathy and destabilization of the blood-brain and blood-retinal barrier protein network. The study used a mouse model to investigate the mechanisms underlying this pathology and found that the mutant mice showed myopathy and impaired performance on an activity wheel. While the mouse model did not fully replicate the severe developmental phenotypes observed in human patients, it provided valuable insights into the functional changes of beta-dystroglycan and the pathogenesis of primary dystroglycanopathies. Please note that this study has not yet undergone peer review. [Extracted from the article]