Conversely, an additional 15 patients of the remaining 209 for whom immunostaining was reported within the overall MYO-SEQ cohort had an α-dystroglycan deficiency or reduced α-dystroglycan glycosylation, yet none of these harboured suspected pathogenic variants in any known dystroglycanopathy genes. This evidence concerns the gene DAG1 and neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.