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Nature 418, 376-377 (25 July 2002) | doi:10.1038/418376a
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Neurobiology: Full circle to cobbled brain
M. Elizabeth Ross
Abstract
A biochemical link between certain congenital muscular dystrophies and the associated brain malformation known as cobblestone lissencephaly has been elusive. But it looks as if that link has been found.
Muscular dystrophies are genetic diseases that cause progressive muscle weakness. The best known is that described by Duchenne, which affects boys and is evident from about five years of age, and which results from mutations in the gene encoding a protein called dystrophin.
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