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

Hudson, G.; Amati-Bonneau, P.; Blakely, E. L.; Stewart, J. D.; He, L.; Schaefer, A. M.; Griffiths, P. G.; Ahlqvist, K.; Suomalainen, A.; Reynier, P.; McFarland, R.; Turnbull, D. M.; Chinnery, P. F.; Taylor, R. W.

期刊名称Brain
作者Hudson, G.; Amati-Bonneau, P.; Blakely, E. L.; Stewart, J. D.; He, L.; Schaefer, A. M.; Griffiths, P. G.; Ahlqvist, K.; Suomalainen, A.; Reynier, P.; McFarland, R.; Turnbull, D. M.; Chinnery, P. F.; Taylor, R. W.
卷第131卷
期第2期
印刷ISSN0006-8950
电子ISSN1460-2156
文件大小217.76KB
发表时间2008-02-01
DOI10.1093/brain/awm272
页码329-337

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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