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Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance

Lookup NU author(s): Dr Gavin Hudson, Joanna Stewart, Emeritus Professor Mike Sir Michael Rawlins, Dr Andrew Schaefer, Philip Griffiths, Professor Bobby McFarland, Professor Doug Turnbull, Professor Patrick Chinnery, Professor Robert Taylor


Publication metadata

Author(s): Hudson G, Amati-Bonneau P, Blakely E, Stewart J, He L, Schaefer A, Griffiths P, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull D, Chinnery P, Taylor R

Publication type: Article

Journal: Brain

Year: 2008

Volume: 131

Issue: 2

Pages: 329-337

ISSN (print): 0006-8950

ISSN (electronic): 1460-2156

Publisher: Oxford University Press


DOI: 10.1093/brain/awm272

PubMed id: 18065439


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