Article
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
Human molecular genetics - 15 Dec 2004
Lee Hsien-Yang, Xu Ying, Huang Yong, Ahn Andrew H, Auburger Georg W J, Pandolfo Massimo, Kwiecinski Hubert, Grimes David A, Lang Anthony E, Nielsen Jorgen E, Averyanov Yuri, Servidei Serenella, Friedman Andrzej, Van Bogaert Patrick, Abramowicz Marc J, Bruno Michiko K, Sorensen Beatrice F, Tang Ling, Fu Ying-Hui, Ptácek Louis J
Abstract excerpt
Paroxysmal non-kinesigenic dyskinesia (PNKD) is characterized by spontaneous hyperkinetic attacks that are precipitated by alcohol, coffee, stress and fatigue. We report mutations in the myofibrillogenesis regulator 1 (MR-1) gene causing PNKD in 50 individuals from eight families. The mutations cause changes (Ala to Val) in the N-terminal region of two MR-1 isoforms. The MR-1L isoform is specifically expressed in...
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