Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy).
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Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). / Wewer, U M; Durkin, M E; Zhang, X; Laursen, H; Nielsen, N H; Towfighi, J; Engvall, E; Albrechtsen, R.
I: Neurology, Bind 45, Nr. 11, 1995, s. 2099-101.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy).
AU - Wewer, U M
AU - Durkin, M E
AU - Zhang, X
AU - Laursen, H
AU - Nielsen, N H
AU - Towfighi, J
AU - Engvall, E
AU - Albrechtsen, R
N1 - Keywords: Abnormalities, Multiple; Basement Membrane; Child, Preschool; Cytoskeletal Proteins; Eye Abnormalities; Humans; Immunohistochemistry; Laminin; Male; Membrane Glycoproteins; Muscles; Muscular Dystrophies; Sarcoglycans; Syndrome
PY - 1995
Y1 - 1995
N2 - 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.
AB - 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.
M3 - Journal article
C2 - 7501167
VL - 45
SP - 2099
EP - 2101
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 11
ER -
ID: 5236699