Publications by authors named "Clara E De Uzcategui"
Article Synopsis
- Eight heterozygous missense mutations in the TUBB3 gene lead to various nervous system disorders collectively termed TUBB3 syndromes, primarily causing ocular motility issues like CFEOM3, along with potential intellectual and behavioral impairments.* -
- Neuroimaging studies show abnormalities in the brain's structure, including underdeveloped oculomotor nerves and malformations in key areas like the corpus callosum and corticospinal tracts.* -
- Research using a mouse model indicates that these mutations can cause defects in axon guidance without affecting cell migration, while laboratory experiments reveal that the mutations impair the formation of tubulin structures necessary for proper cellular function.*
Purpose: Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A.
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