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

      Nature genetics

      Trinucleotide Repeats, Pedigree, Molecular Sequence Data, genetics, Membrane Proteins, Male, Huntington Disease, Humans, Female, Cloning, Molecular, Base Sequence

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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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          Journal
          10.1038/ng760
          11694876

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