To date, at least fourteen genes have been recognized as causative of dystroglycanopathies: POMT1, FKTN, POMGNT1, CRPPA, DAG1, GMPPB, POMK, RXYLT1, POMT2, FKRP, LARGE1, B4GAT1, B3GALNT2, and POMGNT2. These genes mostly encode known or putative glycosyltransferases involved in the glycosylation of DAG1. Here, POMGNT2 is linked to neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.