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Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14

McEntagart, M., Norton, N., Williams, H., Teare, M. D., Dunstan, Melanie, Baker, P., Houlden, H., Reilly, M., Wood, N., Harper, P. S., Futreal, P. A., Williams, Nigel Melville and Rahman, N. 2001. Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. American Journal of Human Genetics 68 (5) , pp. 1270-1276. 10.1086/320122

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Distal hereditary motor neuronopathy type VII (dHMN-VII) is an autosomal dominant disorder characterized by distal muscular atrophy and vocal cord paralysis. We performed a genomewide linkage search in a large Welsh pedigree with dHMN-VII and established linkage to chromosome 2q14. Analyses of a second family with dHMN-VII confirmed the location of the gene and provided evidence for a founder mutation segregating in both pedigrees. The maximum three-point LOD score in the combined pedigree was 7.49 at D2S274. Expansion of a polyalanine tract in Engrailed-1, a transcription factor strongly expressed in the spinal cord, was excluded as the cause of dHMN-VII.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher: Chicago, IL : University of Chicago Press
ISSN: 0002-9297
Last Modified: 28 Jun 2019 02:42

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