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
R. L. Tan, F. Sciandra, W. Huebner, M. Bozzi, J. Reimann, S. Schoch, A. Brancaccio, S. Blaess
This study creates a mouse model of a beta-dystroglycan mutation causing myopathy and altered blood-brain and blood-retinal barrier protein networks, but not severe developmental issues seen in humans.
bioRxiv · Nov 10, 2023Pathology