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). This evidence concerns the gene DAG1 and Duchenne muscular dystrophy.