作者
Meriel McEntagart, Nadine Norton, Hywel Williams, M Dawn Teare, Melanie Dunstan, Philip Baker, Henry Houlden, Mary Reilly, Nick Wood, Peter S Harper, P Andrew Futreal, Nigel Williams, Nazneen Rahman
发表日期
2001/5/1
期刊
The American Journal of Human Genetics
卷号
68
期号
5
页码范围
1270-1276
出版商
Elsevier
简介
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.
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M McEntagart, N Norton, H Williams, MD Teare… - The American Journal of Human Genetics, 2001