Dysferlinopathy, now classified as limb-girdle muscular dystrophy R2, is an autosomal recessive limb-girdle muscular dystrophy (LGMD) caused by pathogenic variants in the DYSF gene located on chromosome 2p13 that encodes the protein dysferlin [2, 3]. This evidence concerns the gene DYSF and neuromuscular disease caused by qualitative or quantitative defects of dysferlin.