An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.

Article

An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.

American journal of human genetics - 1 Oct 1990

Howell N, McCullough D

Abstract excerpt

A large Australian family afflicted with Leber's Hereditary Optic Neuropathy (LHON) is analyzed at the nucleotide sequence level in this report. Biochemical assays of platelet mitochondria isolated from members of this family have demonstrated a significant decrease in the specific activity of Co...

Topics

Australia
Base Sequence
Cloning, Molecular
DNA, Mitochondrial
Female
Genotype
Humans
Male
Molecular Sequence Data
Mutation
NAD(P)H Dehydrogenase (Quinone)
Oligonucleotide Probes
Optic Atrophies, Hereditary
Polymerase Chain Reaction
Quinone Reductases

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