By using histochemistry and IHC studies, we identified 17 patients with sarcolemma-specific collagen VI deficiency (SSCD), 6 patients with partial/complete merosin deficiency, two with reduced alpha-dystroglycan staining, and two with marked inflammatory change in addition to dystrophic change on muscle pathology (Fig 1A~1H). The gene discussed is DAG1; the disease is hyperinsulinemic hypoglycemia, familial, 4.