Sanger confirmation and familial segregation analysis of pathogenic DYSF variants

This study includes Sanger sequencing data generated for the confirmation and familial segregation analysis of pathogenic variants in the DYSF gene in two families with dysferlinopathy. The identified variants were confirmed by Sanger sequencing, and sequencing of available family members was performed to evaluate variant segregation. The submitted data provide independent molecular confirmation of the DYSF variants and support their association with the clinical phenotype.