The 48% increase in diagnostic yield, from 31% to 79%, seen in this study is likely an over estimation of the impact that performing targeted RNA-Seq can have on the overall diagnosis yield in dysferlinopathy, because the cases evaluated for this study were specifically selected on the basis that it was likely that RNA-Seq could provide additional data to aid in pathogenicity classification or identification of additional DYSF variants. Here, DYSF is linked to neuromuscular disease caused by qualitative or quantitative defects of dysferlin.