Macular dystrophy associated with the A3243G mitochondrial DNA mutation: Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members

Archives of Ophthalmology

Volumn 126, Issue 3, 2008, Pages 320-328

  Michaelides, Michel ^a,b   Jenkins, Sharon A ^a   Bamiou, Doris Eva ^c,d   Sweeney, Mary G ^e   Davis, Mary B ^e   Luxon, Linda ^c,e   Bird, Alan C ^a,b   Rath, Pamela P ^a,f  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f Retina Vitreous Consultants   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GLUCOSE; GUANINE; MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; AUDIOLOGY; AUTOFLUORESCENCE; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; FEMALE; GENE EXPRESSION; GENE MUTATION; GLUCOSE BLOOD LEVEL; HEARING LOSS; HUMAN; KIDNEY FUNCTION; MALE; MATERNALLY INHERITED DIABETES AND DEAFNESS; MUTATIONAL ANALYSIS; OPHTHALMOLOGY; PHENOTYPIC VARIATION; PHOTOGRAPHY; PIGMENT EPITHELIUM; PRIORITY JOURNAL; QUESTIONNAIRE; RETINA MACULA DEGENERATION;

ADULT; AGED; AGED, 80 AND OVER; AUDIOMETRY; BLOOD GLUCOSE; DEAFNESS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; FLUORESCENCE; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; PEDIGREE; PIGMENT EPITHELIUM OF EYE; POINT MUTATION; RETINA; VISUAL ACUITY;

EID: 40849106402     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.126.3.320     Document Type: Article

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