Neurology
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Neurology, Vol 45, Issue 11 2099-2101, Copyright © 1995 by American Academy of Neurology


ARTICLES

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

UM Wewer, ME Durkin, X Zhang, H Laursen, NH Nielsen, J Towfighi, E Engvall and R Albrechtsen
Laboratory of Molecular Pathology, University Institute of Pathological Anatomy, Copenhagen, Denmark.

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.





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