title: Dystroglycan: important player in skeletal muscle and beyond.
abstract: Dystroglycan is a transmembrane protein that connects the extracellular matrix to the cytoskeleton. Given the ubiquitous tissue expression of dystroglycan, different functional roles in various organ systems have been characterized during the past decade. More recently, aberrant glycosylation of dystroglycan has been identified as a novel pathogenetic mechanism in several forms of congenital and late onset muscular dystrophy syndromes. The current review summarizes the recent scientific achievements as they relate to the function of dystroglycan under normal and pathophysiological conditions.
authors.affiliation: Johns Hopkins Hospital, Children's Center, McKusick-Nathans Institute of Genetic Medicine, 600 N Wolfe Street, Blalock 1008, Baltimore, MD 21287, USA. rcohn2@jhmi.edu
authors.forename: Ronald D
authors.initials: RD
authors.lastname: Cohn
mesh_terms: D000818:Animals; D049030:Dystroglycans / Q000502:physiology*; D006801:Humans; D008954:Models, Biological; D018482:Muscle, Skeletal / Q000502:physiology*; D009135:Muscular Diseases / Q000378:metabolism / Q000503:physiopathology
chemical_list: D049030:Dystroglycans