DYSF and neuromuscular disease caused by qualitative or quantitative defects of dysferlin: Consequently, targeted panel sequencing identified two pathogenic single-nucleotide variants of the DYSF gene (Reference transcript ID of DYSF: NM_003494.3) associated with dysferlinopathy, namely c.663 + 1G > C (rs398123800) and p.Trp992Arg (rs750028300), which were considered as the best candidates for the autosomal recessive muscular dystrophy.