期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 86, 期 3, 页码 485-489出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2010.02.006
关键词
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资金
- Department of Health via the National Institute for Health Research (NIHR)
- Biomedical Research Centre award to Guy's & St Thomas' NHS Foundation Trust
- King's College London
- King's College Hospital NHS Foundation Trust
- Evelina Charity
- MRC [G0802760] Funding Source: UKRI
- Medical Research Council [G0802760] Funding Source: researchfish
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.
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