Mitochondrial retinal dystrophy associated with the m.3243A>G mutation

Ophthalmology

Volumn 120, Issue 12, 2013, Pages 2684-2696

  De Laat, Paul ^a   Smeitink, Jan A M ^a   Janssen, Mirian C H ^a   Keunen, Jan E E ^a   Boon, Camiel J F ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FLUORESCEIN; LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA;

ADULT; ARTICLE; AUTOFLUORESCENCE; CHEEK MUCOSA; CLINICAL ARTICLE; COHORT ANALYSIS; COLOR VISION TEST; CROSS-SECTIONAL STUDY; DISEASE SEVERITY; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE MUTATION; HETEROPLASMY; HUMAN; LEUKOCYTE; MALE; MITOCHONDRIAL GENE; MTTL1 GENE; OBSERVATIONAL STUDY; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; PRIORITY JOURNAL; RETINA DYSTROPHY; VISUAL ACUITY; CLASSIFICATION; GENETICS; HETEROZYGOTE; MIDDLE AGED; MITOCHONDRIAL DISEASES; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; POINT MUTATION; RETINAL DYSTROPHIES; YOUNG ADULT;

ADULT; COHORT STUDIES; CROSS-SECTIONAL STUDIES; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; OPHTHALMOSCOPY; POINT MUTATION; RETINAL DYSTROPHIES; RNA, TRANSFER, LEU; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; YOUNG ADULT;

EID: 84888011852     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2013.05.013     Document Type: Article

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