Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients’ Cells

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes.They are associated with molecular defects in DYSF, which encodes dysferlin, a key player in sarcolemmal homeostasis.Previous investigations have suggested that exon skipping may be a promising therapy for a subset of patients with dysferlinopathies.Such an approach aims to rescue functional proteins when targeting modular...