Article
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.
Journal of medical genetics - 1 Dec 1993
MacMillan J C, Morrison P J, Nevin N C, Shaw D J, Harper P S, Quarrell O W, Snell R G
Abstract excerpt
Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised by the onset of non-progressive chorea in childhood and the absence of cognitive impairment. Using primers flanking the (CAG)n repeat in IT15, expansion of which is associated with HD, we have detected an abnormal PCR product in four affected members from one family where affected subjects were originally reported to have BHC. The...
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