The complete loss matriglycan structure owing to mutations in protein O-linked mannose β1,2N-acetylglucosaminyltransferase-1 (POMGnT1), fukutin (FKTN), and fukutin-related protein (FKRP) leads to a group of congenital muscular dystrophy referred to as α-dystroglycanopathy, a neuromuscular disorder which is characterized by progressive muscular degeneration, inaccurate brain formation, intellectual disability, and ocular anomalies1,11,12. The gene discussed is FKRP; the disease is neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.