Role of fukutin-dependent glycosylation of dystroglycan on skeletal muscle development, maintenance, and muscular dystrophy pathogenesis

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Fukuyama-type muscular dystrophy, which is caused by mutations in the fukutin gene, is a severe congenital form of muscular dystrophy. Pathogenesis of this disorder is poorly understood and currently no effective treatment is available. In this study, we generated conditional knock-out mice that lack fukutin selectively in the skeletal muscle. These mice showed pathology similar to Fukuyama-type muscular dystrophy, and thus would be a useful model for understanding molecular pathogenesis and establishing therapeutic strategy such as gene therapy.