Laminin β2 chain and adhalin deficiency in the skeletal muscle of Walker‐Warburg syndrome (cerebroocular dysplasia‐muscular dystrophy)
- 1 November 1995
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 45 (11) , 2099-2101
- https://doi.org/10.1212/wnl.45.11.2099
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 β2 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.Keywords
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