The data from individuals with BET1‐related disease further confirm that impaired SNARE‐mediated Golgi trafficking of α‐dystroglycan may contribute to this severe phenotype and highlights its relationship to α‐DG‐related CMD with CNS involvement (i.e., IDT‐related dystroglycanopathies). This evidence concerns the gene BET1 and neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.