Abstract
Autosomal recessive ataxias represent genetic and clinical heterogeneity. Unsteady gait is often accompanied by poor coordination of limbs, speech, and eye movements. To date, seven genes have been identified. In addition, five chromosomal loci have been localized in non-related families. Here, we report homozygosity mapping of a novel locus to a 19.5-cM region on chromosome 20q11–q13 in a large inbred Norwegian family with infantile non-progressive ataxia.
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Acknowledgements
This work was funded in part through the Tode Foundation, the Kristine Foundation, and the August Frederik Wedell-Erichsens Foundation (L.T.), by a Mental Retardation and Developmental Disabilities Center grant (NIH 1P30HD40677; D.A.S., T.M.T.), and by the National Human Genome Research Institute of the National Institutes of Health (J.M.T., E.M.G., M.J.).
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L. Tranebjaerg, T.M. Teslovich, and M. Jones contributed equally to this work
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Tranebjaerg, L., Teslovich, T.M., Jones, M. et al. Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13. Hum Genet 113, 293–295 (2003). https://doi.org/10.1007/s00439-003-0967-8
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DOI: https://doi.org/10.1007/s00439-003-0967-8