The MYO-SEQ project conducted whole-exome sequencing (WES) on 1001 patients diagnosed with limb-girdle muscle disease or unexplained limb-girdle weakness, identifying pathogenic variants in DYSF, causing LGMD type R2 or dysferlinopathy, in 45 cases (4.5%) [7]. Here, DYSF is linked to neuromuscular disease caused by qualitative or quantitative defects of dysferlin.