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Lookup NU author(s): 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.
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
ISSN (print): 0022-510X
ISSN (electronic): 1878-5883
Publisher: Elsevier BV
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