Originally described in association with congenital muscular dystrophy and dystroglycanopathy, pial basement membrane defects and over-migration are now recognised in association with mutations in numerous genes including GPR56, TUBB2B, COL4A1 and MARCKS [7,26,28,29,31,54]. The gene discussed is ADGRG1; the disease is neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.