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Leeds, United Kingdom

Green P.,Kings College London | Wiseman M.,Kings College London | Crow Y.J.,University of Manchester | Houlden H.,University College London | And 7 more authors.
American Journal of Human Genetics

Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at onset and clinical course. The key features are progressive ponto-bulbar palsy and bilateral sensorineural deafness. A complex neurological phenotype with a mixed picture of upper and lower motor neuron involvement reminiscent of amyotrophic lateral sclerosis evolves with disease progression. We identified a candidate gene, C20orf54, by studying a consanguineous family with multiple affected individuals and subsequently demonstrated that mutations in this gene were the cause of disease in other, unrelated families. © 2010 The American Society of Human Genetics. Source

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