Abstract
Mutations in fukutin related protein (FKRP) are responsible for a common group of muscular dystrophies ranging from adult onset limb girdle muscular dystrophies to severe congenital forms. We have now generated a mouse with a knock-down in Fkrp expression levels in the skeletal muscle but not the central nervous system (Sox1 Cre FKRPKD). The skeletal muscle of this mouse shows a marked reduction in glycosylated αdystroglycan and develops a clear muscle phenotype by 12weeks of age. Previous work has shown that the over-expression of LARGE induces the hyperglycosylation of α-dystroglycan in both wild type and in cells from dystroglycanopathy patients, irrespective of their primary gene defect, strongly suggesting that LARGE could be an important therapeutic approach in these disorders.
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