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- Title
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease?like 2.
- Authors
Holmes, Susan E.; O'Hearn, Elizabeth; Rosenblatt, Adam; Callahan, Colleen; Hwang, Hyon S.; Ingersoll-Ashworth, Roxann G.; Fleisher, Adam; Stevanin, Giovanni; Brice, Alexis; Potter, Nicholas T.; Ross, Christopher A.; Margolis, Russell L.
- Abstract
We recently described a disorder termed Huntington disease-like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a gene involved in the formation of junctional membrane structures.
- Subjects
GENE expression; GENETIC disorders
- Publication
Nature Genetics, 2001, Vol 29, Issue 4, p377
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng760