A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.
Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, Fleisher A, Stevanin G, Brice A, Potter NT, et al. Nat Genet. 2001 Dec; 29(4):377-8.