Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy).

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

SN - 0028-3878

VL - 45

SP - 2099

EP - 2101

JO - Neurology

JF - Neurology

IS - 11

ER -