title: Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.
abstract: X-linked recessive Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin, a membrane cytoskeletal protein. Dystrophin is associated with a large oligomeric complex of sarcolemmal glycoprotein. The dystrophin-glycoprotein complex has been proposed to span the sarcolemma to provide a link between the subsarcolemmal cytoskeleton and the extracellular matrix component, laminin. In DMD, the absence of dystrophin leads to a large reduction in all of the dystrophin-associated protein. We have investigated the possibility that a deficiency of a dystrophin-associated protein could be the cause of severe childhood autosomal recessive muscular dystrophy (SCARMD) with a DMD-like phenotype. Here we report the specific deficiency of the 50K dystrophin-associated glycoprotein (M(r) 50,000) in sarcolemma of SCARMD patients. Therefore, the loss of this glycoprotein is a common denominator of the pathological process leading to muscle cell necrosis in two forms of muscular dystrophy, DMD and SCARMD.
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: F M
authors.initials: FM
authors.lastname: Tomé
authors.forename: H
authors.initials: H
authors.lastname: Collin
authors.forename: K
authors.initials: K
authors.lastname: Azibi
authors.forename: M
authors.initials: M
authors.lastname: Chaouch
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: D001706:Biopsy; D002648:Child; D003598:Cytoskeletal Proteins / Q000172:deficiency* / Q000302:isolation & purification; D049030:Dystroglycans; D016189:Dystrophin / Q000302:isolation & purification*; D004591:Electrophoresis, Polyacrylamide Gel; D005808:Genes, Recessive; D006801:Humans; D008562:Membrane Glycoproteins; D008970:Molecular Weight; D009132:Muscles / Q000737:chemistry / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009336:Necrosis; D012508:Sarcolemma / Q000737:chemistry
chemical_list: D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049030:Dystroglycans