title: The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies.
abstract: The dystrophin-glycoprotein complex is considered to be a major trans-sarcolemmal structure which provides a linkage between the subsarcolemmal actin cytoskeleton and the extracellular matrix component laminin. Recently, deficiency of the dystrophin-associated proteins has been shown to play an important role in the molecular pathogenesis of several forms of muscular dystrophy. These include Duchenne muscular dystrophy (DMD), symptomatic DMD carriers, Becker muscular dystrophy and severe childhood autosomal recessive muscular dystrophy with DMD-like phenotype prevalent in North Africa. In Fukuyama-type congenital muscular dystrophy (FCMD), the finding of abnormal expression of the dystrophin-associated proteins may provide a clue to its molecular pathogenesis. These recent findings indicate that the linkage between the subsarcolemmal cytoskeleton and extracellular matrix via the dystrophin-glycoprotein complex is critical for maintaining the integrity of muscle cell function.
authors.affiliation: Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242.
authors.forename: K
authors.initials: K
authors.lastname: Matsumura
authors.forename: K
authors.initials: K
authors.lastname: Ohlendieck
authors.forename: V V
authors.initials: VV
authors.lastname: Ionasescu
authors.forename: F M
authors.initials: FM
authors.lastname: Tomé
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: A H
authors.initials: AH
authors.lastname: Burghes
authors.forename: M
authors.initials: M
authors.lastname: Mora
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: K P
authors.initials: KP
authors.lastname: Campbell
mesh_terms: D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics / Q000502:physiology*; D049030:Dystroglycans; D016189:Dystrophin / Q000235:genetics / Q000502:physiology*; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics / Q000502:physiology*; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics / Q000503:physiopathology*; D017384:Sequence Deletion
chemical_list: D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049030:Dystroglycans