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

Brain

Volumn 131, Issue 2, 2008, Pages 329-337

  Hudson, Gavin ^a   Amati Bonneau, Patrizia ^b,c   Blakely, Emma L ^a   Stewart, Joanna D ^a   He, Langping ^a   Schaefer, Andrew M ^a   Griffiths, Philip G ^d   Ahlqvist, Kati ^e,f   Suomalainen, Anu ^e,f   Reynier, Pascal ^b,c   McFarland, Robert ^a   Turnbull, Douglass M ^a,g   Chinnery, Patrick F ^a,g   Taylor, Robert W ^a,g  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b INSERM   (France)

^c ANGERS UNIVERSITY HOSPITAL   (France)

^d ROYAL VICTORIA INFIRMARY   (United Kingdom)

^e UNIVERSITY OF HELSINKI   (Finland)

^f HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^g NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Autosomal dominant optic atrophy; Autosomal dominant progressive external ophthalmoplegia; Mitochondria; Mitochondrial DNA; Mitochondrial encephalomyopathy; Multiple mtDNA deletions

Indexed keywords

CYTOCHROME C OXIDASE;

ADULT; AGED; ARTICLE; ATAXIA; CLINICAL ARTICLE; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; OPHTHALMOPLEGIA; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; SCHOOL CHILD; SKELETAL MUSCLE; VISUAL IMPAIRMENT;

EID: 38849151612     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm272     Document Type: Article

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