For the 16 cases that remain unresolved, 6 are unlikely to have dysferlinopathy, with 3 (JF15, JF126, JF371) having zero DYSF variants or only one DYSF variant classified as a VUS or LB as well as variants in other muscular dystrophy related genes that could explain their phenotype, and 3 cases (JF370, JF392, JF194) having only one DYSF variant identified and normal/out of disease range DYSF protein expression. Here, DYSF is linked to neuromuscular disease caused by qualitative or quantitative defects of dysferlin.