Crucially, 15 of our 27 patients had suspected pathogenic variants in genes that were omitted from the aforementioned study (DPM3, FKRP, GMPPB, ISPD and POMK), indicating that an unbiased approach must be sought to fully characterise dystroglycanopathies. This evidence concerns the gene FKRP and neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.