A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. |
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| Authors: | S E Holmes 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 |
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| Affiliation: | Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA. |
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| 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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