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

Susan E. Holmes, Elizabeth O’hearn, Adam Rosenblatt, Colleen Callahan, Hyon S. Hwang, Roxann G. Ingersoll-Ashworth, Adam Fleisher, Giovanni Stevanin, Alexis Brice, Nicholas T. Potter, Christopher A. Ross, Russell L. Margolis

Research output: Contribution to journalArticlepeer-review

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)1. 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.

Original languageEnglish (US)
Pages (from-to)377-378
Number of pages2
JournalNature genetics
Volume29
Issue number4
DOIs
StatePublished - Dec 2001

ASJC Scopus subject areas

  • Genetics

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