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

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

Mutations in nuclear genes involved in mitochondrial DNA (mtDNA) maintenance cause a wide range of clinical phenotypes associated with the secondary accumulation of multiple mtDNA deletions in affected tissues. The majority of families with autosomal dominant progressive external ophthalmoplegia (PE...

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Main Authors: Hudson, Gavin (Author), Amati-Bonneau, Patrizia (Author), Blakely, Emma L (Author), Stewart, Joanna D (Author), He, Langping (Author), Schaefer, Andrew M. (Author), Griffiths, Philip G. (Author), Ahlqvist, Kati (Author), Suomalainen, Anu (Author), Reynier, Pascal (Author), McFarland, Robert (Author), Turnbull, Douglass M. (Author), Chinnery, Patrick F (Author), Taylor, Robert W. (Author)
Format: Article
Language:English
Published: 2008-02.
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