Article
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.
Neurology - 22 May 2007
Bruno M K, Lee H-Y, Auburger G W J, Friedman A, Nielsen J E, Lang A E, Bertini E, Van Bogaert P, Averyanov Y, Hallett M, Gwinn-Hardy K, Sorenson B, Pandolfo M, Kwiecinski H, Servidei S, Fu Y-H, Ptácek L
Abstract excerpt
BACKGROUND: Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder characterized by episodic hyperkinetic movement attacks. We have recently identified mutations in the MR-1 gene causing familial PNKD. METHODS: We reviewed the clinical features of 14 kindreds with familial dyskinesia that was not clearly induced by movement or during sleep. Of these 14 kindreds, 8 had MR-1 mutations and 6 did not....
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