Institut für Rekonstruktive Neurobiologie (IRN)

The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization
Tan, Rui Lois; Sciandra, Francesca; Hübner, Wolfgang; Bozzi, Manuela; Reimann, Jens; Schoch, Susanne; Brancaccio, Andrea; Blaess, Sandra (2024-06-18)
Dystroglycan (DG) is an extracellular matrix receptor consisting of an α- and a β-DG subunit encoded by the DAG1 gene. The homozygous mutation (c.2006G>T, p.Cys669Phe) in β-DG causes muscle-eye-brain disease with multicystic ...