Cassandre Labelle-Dumais et al. [24] demonstrates that mutations in COL4A1 gene are a major cause of Muscle-eye-brain disease (MEB) and Walker Warburg Syndrome (WWS), characterized by ocular dysgenesis, neuronal migration defects, and congenital muscular dystrophy, this finding could develop an assay to test the functional significance of putative COL4A1 mutations. This evidence concerns the gene COL4A1 and muscle-eye-brain disease.