Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance-Reference-Cited by-同舟云学术

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

Published:2007-12-07 Issue:2 Volume:131 Page:329-337
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Hudson Gavin,Amati-Bonneau Patrizia,Blakely Emma L.,Stewart Joanna D.,He Langping,Schaefer Andrew M.,Griffiths Philip G.,Ahlqvist Kati,Suomalainen Anu,Reynier Pascal,McFarland Robert,Turnbull Douglass M.,Chinnery Patrick F.,Taylor Robert W.

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/131/2/329/13734138/awm272.pdf

Reference53 articles.

1. A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy;Alavi;Brain,2007

2. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nat Genet,2000

3. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness;Amati-Bonneau;Ann Neurol,2005

4. Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina;Andrews;Br J Ophthalmol,1999

5. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews;Anikster;Am J Hum Genet,2001

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