Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

doi:10.1136/jmg.31.4.280

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Article

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

Journal of medical genetics - 1 Apr 1994

Oostra R J, Bolhuis P A, Wijburg F A, Zorn-Ende G, Bleeker-Wagemakers E M

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease associated with mitochondrial DNA (mtDNA) mutations. We describe the distribution of seven different mtDNA mutations and the clinical findings in 334 LHON patients belonging to 29 families. Mutations described only in LH...

Topics

Adolescent
Adult
Age of Onset
Aged
Child
Child, Preschool
DNA Mutational Analysis
DNA, Mitochondrial
Female
Genotype
Humans
Male
Middle Aged
Mutation
Optic Atrophies, Hereditary
Pedigree
Visual Acuity

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