A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2

Authors
Holmes, SE O'Hearn, E Rosenblatt, A Callahan, C Hwang, HS Ingersoll-Ashworth, RG Fleisher, A Stevanin, G Brice, A Potter, NT Ross, CA Margolis, RL
Citation
Se. Holmes et al., A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2, NAT GENET, 29(4), 2001, pp. 377-378
Citations number
10
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
10614036 → ACNP
Volume
29
Issue
4
Year of publication
2001
Pages
377 - 378
Database
ISI
SICI code
1061-4036(200112)29:4<377:AREITG>2.0.ZU;2-Q
Abstract
We recently described a disorder termed Huntington disease-like 2 (HDL2) th at completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W)(1). We now report the cloning of this expansion and its locali zation to a variably spliced exon of JPH3 (encoding junctophilin-3), a gene involved in the formation of junctional membrane structures.