Pathogenic variants have been reported in the genes of dystrophin (DMD), sarcoglycans alpha, gamma, and delta (SGCB, SGCG, and SGCD), and genes of proteins that glycosylate the dystroglycans, such as Protein O-mannosyl transferase 1 and 2 (POMT1 and POMT2), Protein O-mannose beta-1, 2-N-acetylglucosaminyltransferase (POMGNT1), Fukutin (FKTN), Fukutin-related protein (FKRP), and Dystroglycan 1 (DAG1). The gene discussed is FKTN; the disease is Duchenne muscular dystrophy.