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Nat Genet. 2001 Dec;29(4):377-8.

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

Author information

1
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

Erratum in

  • Nat Genet 2002 Jan;30(1):123.

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.

PMID:
11694876
DOI:
10.1038/ng760
[Indexed for MEDLINE]

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