COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

Muscle-eye-brain disease (MEB) and Walker Warburg Syndrome (WWS) belong to a spectrum of autosomal recessive diseases characterized by ocular dysgenesis, neuronal migration defects, and congenital muscular dystrophy. Until now, the pathophysiology of MEB/WWS has been attributed to alteration in dyst...

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Bibliographic Details
Main Authors: Cassandre Labelle-Dumais, David J Dilworth, Emily P Harrington, Michelle de Leau, David Lyons, Zhyldyz Kabaeva, M Chiara Manzini, William B Dobyns, Christopher A Walsh, Daniel E Michele, Douglas B Gould
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-05-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3098190?pdf=render

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http://europepmc.org/articles/PMC3098190?pdf=render

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