Due to the enrichment of regulatory variants in FKTN and DTNA, we expanded our search to additional dystroglycanopathy genes (LARGE1, POMT1, POMT2) and identified two regulatory variants of interest in LARGE1 in gene-elusive cases (Supplementary Table 4). Here, POMT2 is linked to neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.