Those cases with two DYSF variants identified (JF198, C155, JF244, JF173, JF255) or one pathogenic DYSF variant (JF251) are the most likely to have dysferlinopathy, and continued analysis to reclassify the DYSF variants as pathogenic and/or to identify the second DYSF variant needs to be performed. This evidence concerns the gene DYSF and neuromuscular disease caused by qualitative or quantitative defects of dysferlin.