A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

Abstract excerpt

OBJECTIVE: Mutations in dysferlin (DYSF), a Ca(2+)-sensitive ferlin family protein important for membrane repair, vesicle trafficking, and T-tubule function, cause Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal myopathy. More than 330 pathogenic DYSF mutations have been identified within exons or near exon-intron junctions. In ~17% of patients who lack normal DYSF, only a single...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiomyopathy and Myosin Studies
• Share to Muscle Physiology and Disorders
• Share to Nuclear Structure and Function