The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization.
Tan RL, Sciandra F, Hübner W, Bozzi M, Reimann J, Schoch S, Brancaccio A, Blaess S. Dis Model Mech. 2024 Jun 1; 17(6). Epub 2024 Jun 18.