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Article

Novel heteroplasmic mutation in the anticodon stem of mitochondrial tRNA(Lys) associated with dystonia and stroke-like episodes.

Acta neurologica Scandinavica - 1 Oct 2010

Gal A, Pentelenyi K, Remenyi V, Pal Z, Csanyi B, Tomory G, Rasko I, Molnar M J

Abstract excerpt

OBJECTIVES: We report a novel heteroplasmic mitochondrial tRNA(Lys) mutation associated with dystonia, stroke-like episodes, sensorineural hearing loss and epilepsy in a Hungarian family. MATERIAL AND METHODS: A 16-year-old boy, his brother and mother were investigated. Thorough clinical investigation as well as electrophysiological, neuroradiological and myopathological examinations were performed. Molecular...

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Identifiers

PMID: 19930207
DOI: 10.1111/j.1600-0404.2009.01297.x

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