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Investigation of the mitochondrial genome in patients with atypical motor neuron disease

Lookup NU author(s): Geoffrey Taylor, Professor Pamela Shaw, Emeritus 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.

Publication metadata

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

Year: 2007

Volume: 254

Issue: 4

Pages: 482-487

Print publication date: 01/04/2007

ISSN (print): 0340-5354

ISSN (electronic): 1432-1459

Publisher: Dr. Dietrich Steinkopff Verlag


DOI: 10.1007/s00415-006-0399-1

PubMed id: 17401521


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