Article
Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations.
Investigative ophthalmology & visual science - 1 Sept 2010
Demer Joseph L, Clark Robert A, Tischfield Max A, Engle Elizabeth C
Abstract excerpt
PURPOSE: Orbital magnetic resonance imaging (MRI) was used to investigate the structural basis of motility abnormalities in congenital fibrosis of the extraocular muscles type 3 (CFEOM3), a disorder resulting from missense mutations in TUBB3, which encodes neuron-specific beta-tubulin isotype III. METHODS: Ophthalmic examinations in 13 volunteers from four CFEOM3 pedigrees and normal control subjects, were...
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