Lookup NU author(s): Geoffrey Taylor,
Professor Pamela Shaw,
Professor Doug Turnbull,
Professor Robert Taylor
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The molecular aetiology of many patients with motor neuron disease (MND) remains unknown. Recent evidence of mitochondrial dysfunction, in particular the finding of histochemical abnormalities and pathogenic mitochondrial DNA (mtDNA) mutations, has prompted us to investigate further the role of mtDNA abnormalities in a cohort of thirteen patients with atypical MND presentations by whole mitochondrial genome sequencing. No pathogenic mutations were detected suggesting that inherited mtDNA mutations are not a common cause of atypical MND presentations. © 2007 Steinkopff-Verlag.
Author(s): Phoenix C, Taylor GA, Hartley J, Nixon H, Ince PG, Shaw PJ, Turnbull DM, Taylor RW
Publication type: Article
Publication status: Published
Journal: Journal of Neurology
Print publication date: 01/04/2007
ISSN (print): 0340-5354
ISSN (electronic): 1432-1459
Publisher: Dr. Dietrich Steinkopff Verlag
PubMed id: 17401521
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