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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Autores principales: Labelle-Dumais, Cassandre, Dilworth, David J., Harrington, Emily P., de Leau, Michelle, Lyons, David, Kabaeva, Zhyldyz, Manzini, M. Chiara, Dobyns, William B., Walsh, Christopher A., Michele, Daniel E., Gould, Douglas B.
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2011
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3098190/
https://ncbi.nlm.nih.gov/pubmed/21625620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002062
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