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

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

  • Nat Genet. 2001 Dec;29(4):377-8. doi: 10.1038/ng760.
S E Holmes 1,  E O'Hearn,  A Rosenblatt,  C Callahan,  H S Hwang,  R G Ingersoll-Ashworth,  A Fleisher,  G Stevanin,  A Brice,  N T Potter,  C A Ross,  R L Margolis
Affiliations

Affiliation

  • 1 Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
PMID: 11694876 DOI: 10.1038/ng760
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.

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