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. Here, FKTN is linked to neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.