Besides the deficiency in glycosylation of dystroglycans, a significant reduction in dystroglycan protein level is also evident in several patients with “dystroglycanopathies”.12 Dystroglycan interacts with several intracellular and extracellular proteins or signalling molecules. The gene discussed is DAG1; the disease is neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.