Primary dystroglycanopathies caused by mutations in the DAG1 gene encoding α- and βDG have been reported in two patients, affecting dystroglycan function by impairing glycosylation of αDG or by presumed disruption of the αDG – βDG binding interface [12], [13]. The gene discussed is DAG1; the disease is primary qualitative or quantitative defects of alpha-dystroglycan.