title: Dystroglycan induced muscular dystrophies - a review.
abstract: Dystroglycanopathies are muscular dystrophies caused by mutations in genes involved the in O-linked glycosylation of α-dystroglycan. Severe forms of these conditions result in abnormalities in exhibit brain and ocular developmental too, in addition to muscular dystrophy. The full spectrum of developmental pathology is caused mainly by loss of dystroglycan from Bergmann glia. Moreover, cognitive deficits are constant features of severe forms of dystroglycanopathies. However, the precise molecular mechanism leading to neuronal dysfunction in these diseases is not fully known yet. The present review article will discuss the importance of dystroglycan in cerebellar development and associated pathological states.
authors.affiliation: Department of Neurology, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China. 386860155@qq.com.
authors.forename: Q-Z
authors.initials: QZ
authors.lastname: Zhang
mesh_terms: D049030:Dystroglycans; D006031:Glycosylation; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation
chemical_list: D049030:Dystroglycans