title: Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy).
abstract: Muscular dystrophy may be caused by disturbances in a number of muscle proteins that appear to be part of a chain of interacting molecules that includes cytoskeletal, cell membrane, and basement membrane components. We found that the skeletal muscle cells in two cases of Walker-Warburg syndrome were severely deficient in the laminin beta 2 chain and in adhalin. The findings indicate that these two proteins are key molecules in the interactive protein complex conferring muscle stability and cell survival.
authors.affiliation: Laboratory of Molecular Pathology, University Institute of Pathological Anatomy, Copenhagen, Denmark.
authors.forename: U M
authors.initials: UM
authors.lastname: Wewer
authors.forename: M E
authors.initials: ME
authors.lastname: Durkin
authors.forename: X
authors.initials: X
authors.lastname: Zhang
authors.forename: H
authors.initials: H
authors.lastname: Laursen
authors.forename: N H
authors.initials: NH
authors.lastname: Nielsen
authors.forename: J
authors.initials: J
authors.lastname: Towfighi
authors.forename: E
authors.initials: E
authors.lastname: Engvall
authors.forename: R
authors.initials: R
authors.lastname: Albrechtsen
mesh_terms: D000015:Abnormalities, Multiple / Q000378:metabolism*; D001485:Basement Membrane / Q000378:metabolism; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000032:analysis*; D005124:Eye Abnormalities / Q000378:metabolism*; D006801:Humans; D007150:Immunohistochemistry; D007797:Laminin / Q000032:analysis*; D008297:Male; D008562:Membrane Glycoproteins / Q000032:analysis*; D009132:Muscles / Q000378:metabolism*; D009136:Muscular Dystrophies / Q000378:metabolism*; D049031:Sarcoglycans; D013577:Syndrome
chemical_list: D003598:Cytoskeletal Proteins; D007797:Laminin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans