David L. Mack

Use of split intein and myotropic AAV vectors enables effective preclinical gene therapy for dysferlinopathy

Limb-girdle muscular dystrophy type R2 (LGMDR2) is a genetic disorder characterized by progressive skeletal muscle weakness and degeneration. It is caused by mutations in the DYSF gene, which prevent dysferlin expression. Dysferlin protein is essential for muscle cell membrane re...