Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci.

@article{Rudnicki2007HuntingtonsD2,
  title={Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci.},
  author={Dobrila D. Rudnicki and Susan Elizabeth Holmes and Mark Wen-Yih Lin and Charles A. Thornton and Christopher A. Ross and Russell L. Margolis},
  journal={Annals of neurology},
  year={2007},
  volume={61 3},
  pages={
          272-82
        }
}
OBJECTIVE Huntington's disease-like 2 (HDL2) is caused by a CAG/CTG expansion mutation on chromosome 16q24.3. The repeat falls, in the CTG orientation, within a variably spliced exon of junctophilin-3 (JPH3). The existence of a JPH3 splice variant with the CTG repeat in 3' untranslated region suggested that transcripts containing an expanded CUG repeat could play a role in the pathogenesis of HDL2, similar to the proposed pathogenic role of expanded CUG repeats in myotonic dystrophy type 1 (DM1… CONTINUE READING
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