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Article

Macular Dystrophy Associated With the A3243G Mitochondrial DNA Mutation

1 Mar 2008

Abstract excerpt

OBJECTIVES: To determine (1) detailed retinal and audiological features of probands harboring the A3243G mitochondrial DNA mutation (m.3243A>G) and their asymptomatic maternal relatives, (2) intrafamilial and interfamilial phenotypic variability, and (3) the presence of other systemic features. METHODS: Seven probands harboring the A3243G mitochondrial DNA mutation and 36 asymptomatic maternal relatives were...

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PMID: 18332310
DOI: 10.1001/archopht.126.3.320

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