Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy).
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.
Wewer
U M
UM
Laboratory of Molecular Pathology, University Institute of Pathological Anatomy, Copenhagen, Denmark.
Durkin
M E
ME
Zhang
X
X
Laursen
H
H
Nielsen
N H
NH
Towfighi
J
J
Engvall
E
E
Albrechtsen
R
R
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
D003598:Cytoskeletal Proteins; D007797:Laminin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans