Restoration of Dysferlin After Exon 32 Skipping in Patient Cells.

Dysferlinopathies stand as uncommon genetic disorders that impact muscle function, stemming from mutations within the DYSF gene. Recent research has unveiled that exon 32 of DYSF is dispensable for dysferlin's functional properties. In this study, we introduce an approach to observe exon 32 skipping at both the RNA and protein levels, using an antisense oligonucleotide, within cells obtained from a patient affected with dysferlinopathy.