Article
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.
JAMA neurology - 1 Jun 2016
Martikainen Mika H, Ng Yi Shiau, Gorman Gráinne S, Alston Charlotte L, Blakely Emma L, Schaefer Andrew M, Chinnery Patrick F, Burn David J, Taylor Robert W, McFarland Robert, Turnbull Doug M
Abstract excerpt
IMPORTANCE: Extrapyramidal movement disorders associated with mitochondrial disease are difficult to treat and can lead to considerable disability. Moreover, potential new treatment trials on the horizon highlight the importance of genotype-phenotype associations and deep phenotyping of the movement disorders related to mitochondrial disease. OBJECTIVE: To describe the phenotype, genetic etiology, and...
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