Skipping over a rare disease

A team from Northwestern University has expanded the exon-skipping approach used for Duchenne muscular dystrophy (DMD) to a rarer form of muscular dystrophy, limb girdle muscular dystrophy type 2C (LGMD 2C), by targeting the key exons mutated in the sarcoglycan γ (SGCG) gene.

LGMD 2C is caused by inherited frameshift mutations in exon 6 of the SGCG gene, leading to a non-functional sarcoglycan complex. The complex contains the family of sarcoglycans, and interacts with dystrophin (DMD) and collagen to connect the muscle fiber cytoskeleton to extracellular matrix in muscles. Children with LGMD 2C have muscle disorders primarily in the hips and shoulders...