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Article

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

PLoS genetics - 1 May 2011

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

Abstract excerpt

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 dystroglycan post-translational modification. Here, we provide evidence that mutations in a gene coding for a major...

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PMID: 21625620
DOI: 10.1371/journal.pgen.1002062
PMCID: PMC3098190

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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