On the basis of muscle pathology, patients were first categorized into seven groups according to dystrophic changes with (1) dystrophin deficiency, (2) dysferlin deficiency, (3) sarcoglycan deficiency, (4) alpha-dystroglycan deficiency, (5) markedly disorganized myofibrillar network with or without cytoplasmic body and rimmed vacuole, (6) numerous lobulated fibers, and (7) others (Fig. 1). This evidence concerns the gene DAG1 and neuromuscular disease caused by qualitative or quantitative defects of dystrophin.