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

被引：194
作者：
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 [1 ]
机构：
[1] Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA
[2] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA
[3] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA
[4] Johns Hopkins Univ, Sch Med, Inst Med Genet, Baltimore, MD 21205 USA
[5] Hop La Pitie Salpetriere, INSERM U289, Paris, France
[6] Univ Tennessee, Med Ctr, Dept Med Genet, Knoxville, TN USA
[7] Johns Hopkins Univ, Sch Med, Program Cellular & Mol Med, Baltimore, MD 21287 USA
来源：
NATURE GENETICS | 2001年 / 29卷 / 04期
关键词：
D O I：
10.1038/ng760
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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收藏
页码：377 / 378
页数：2
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