LARGE1 and neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan: 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).