Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation.

doi:10.1001/archopht.1992.01080230077025

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Article

Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 1992

Johns D R, Smith K H, Miller N R

Abstract excerpt

Leber's hereditary optic neuropathy is associated with three different point mutations of mitochondrial DNA that appear to be pathogenetic for the disease. These mutations affect nucleotide positions 3460, 11,778, and 15,257. We reviewed the clinical characteristics of 12 visually symptomatic pat...

Topics

Adolescent
Adult
Aged
Child
DNA, Mitochondrial
Female
Gene Expression
Humans
Male
Optic Atrophies, Hereditary
Pedigree
Phenotype
Point Mutation
Polymerase Chain Reaction
Risk Factors
Visual Acuity

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