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Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation

Lookup NU author(s): Professor Bobby McFarlandORCiD, Professor Robert Taylor


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We describe a young girl with a novel 1659T>C mutation in the (t)RNA(Val) gene of mitochondrial DNA (mtDNA) who presented with learning difficulties, hemiplegia, and a movement disorder, together with a raised cerebrospinal fluid (CSF) lactate. The mutation, which was present at high levels of heteroplasmy in patient tissues, interrupts a conserved Watson-Crick basepair in the TPsiC stem and has not previously been described in controls. This report further confirms the frequent association of mitochondrial tRNA mutation with neurological presentations, even in paediatric cases. (C) 2004 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Blakely EL, Poulton J, Pike M, Wojnarowska F, Turnbull PM, McFarland R, Taylor RW

Publication type: Article

Publication status: Published

Journal: Journal of the Neurological Sciences

Year: 2004

Volume: 225

Issue: 1-2

Pages: 99-103

ISSN (print): 0022-510X

ISSN (electronic): 1878-5883

Publisher: Elsevier BV


DOI: 10.1016/j.jns.2004.07.007


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