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

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 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.

• Authors: U M Wewer, M E Durkin, X Zhang, H Laursen, N H Nielsen, J Towfighi, E Engvall, R Albrechtsen
• Journal: Neurology (Neurology) Vol. 45 Issue 11 Pg. 2099-101 (Nov 1995) ISSN: 0028-3878 [Print] United States
• PMID: 7501167 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Cytoskeletal Proteins
• Laminin
• Membrane Glycoproteins
• Sarcoglycans

Topics

• Abnormalities, Multiple (metabolism)
• Basement Membrane (metabolism)
• Child, Preschool
• Cytoskeletal Proteins (analysis)
• Eye Abnormalities (metabolism)
• Humans
• Immunohistochemistry
• Laminin (analysis)
• Male
• Membrane Glycoproteins (analysis)
• Muscles (metabolism)
• Muscular Dystrophies (metabolism)
• Sarcoglycans
• Syndrome