Article
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
Brain : a journal of neurology - 1 Sept 2012
Johnson Janel O, Gibbs J Raphael, Megarbane Andre, Urtizberea J Andoni, Hernandez Dena G, Foley A Reghan, Arepalli Sampath, Pandraud Amelie, Simón-Sánchez Javier, Clayton Peter, Reilly Mary M, Muntoni Francesco, Abramzon Yevgeniya, Houlden Henry, Singleton Andrew B
Abstract excerpt
Brown-Vialetto-Van Laere syndrome was first described in 1894 as a rare neurodegenerative disorder characterized by progressive sensorineural deafness in combination with childhood amyotrophic lateral sclerosis. Mutations in the gene, SLC52A3 (formerly C20orf54), one of three known riboflavin transporter genes, have recently been shown to underlie a number of severe cases of Brown-Vialetto-Van Laere syndrome;...
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