Mitochondrial DNA diseases: genotype and phenotype in Leber's hereditary optic neuropathy.

doi:10.1002/mus.880181417

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Article

Mitochondrial DNA diseases: genotype and phenotype in Leber's hereditary optic neuropathy.

Muscle & nerve. Supplement - 1 Jan 1995

Harding A E, Riordan-Eva P, Govan G G

Abstract excerpt

We have investigated 107 patients from 79 families with Leber's hereditary optic neuropathy (LHON), defined by the presence of one of the mitochondrial DNA (mtDNA) mutations at positions 11778 (60 families), 3460 (7), or 14484 (12). Only about 60% of the index patients had a history of similarly...

Topics

Adolescent
Adult
Child
DNA, Mitochondrial
Female
Genotype
Humans
Male
Mutation
Optic Atrophies, Hereditary
Phenotype

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