A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.
Nat Genet. 2001-11-05; 29(4): 377-378
Lire sur PubMed
1. Nat Genet. 2001 Dec;29(4):377-8.
A repeat expansion in the gene encoding junctophilin-3 is associated with
Huntington disease-like 2.
Holmes SE(1), O’Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth
RG, Fleisher A, Stevanin G, Brice A, Potter NT, Ross CA, Margolis RL.
(1)Department of Psychiatry, Johns Hopkins University School of Medicine,
Baltimore, Maryland 21287, USA.
Nat Genet 2002 Jan;30(1):123.
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 [Indexed for MEDLINE]