Article
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Human molecular genetics - 15 Nov 2010
Poirier Karine, Saillour Yoann, Bahi-Buisson Nadia, Jaglin Xavier H, Fallet-Bianco Catherine, Nabbout Rima, Castelnau-Ptakhine Laetitia, Roubertie Agathe, Attie-Bitach Tania, Desguerre Isabelle, Genevieve David, Barnerias Christine, Keren Boris, Lebrun Nicolas, Boddaert Nathalie, Encha-Razavi Féréchté, Chelly Jamel
Abstract excerpt
Mutations in the TUBB3 gene, encoding β-tubulin isotype III, were recently shown to be associated with various neurological syndromes which all have in common the ocular motility disorder, congenital fibrosis of the extraocular muscle type 3 (CFEOM3). Surprisingly and in contrast to previously described TUBA1A and TUBB2B phenotypes, no evidence of dysfunctional neuronal migration and cortical organization was...
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