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    Am J Hum Genet. 2010 Mar 12;86(3):485-9. Epub 2010 Mar 4.

    Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

    Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ.

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    Department of Medical and Molecular Genetics, Kings College, London, SE1 9RT, UK.

    Abstract

    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.

    Copyright 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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    PMID:
    20206331
    [PubMed - indexed for MEDLINE]
    PMCID: PMC2833371
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