Leigh Disease Caused by the Mitochondrial DNA G14459A Mutation in Unrelated Families

Overview

Journal Ann Neurol

Specialty Neurology

Date 2000 Jul 14

PMID 10894222

Citations 24

Authors

D M Kirby

S G Kahler

M L Freckmann

D Reddihough

D R Thorburn

Affiliations

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Abstract

Leigh disease can be caused by defects of both nuclear and mitochondrially encoded genes. One mitochondrial DNA mutation, G14459A, has been associated with both respiratory chain complex I deficiency and Leber's hereditary optic neuropathy, with or without dystonia. Here, we report the occurrence of this mutation in 3 complex I-deficient patients from 2 separate pedigrees who presented with Leigh disease, with no evidence or family history of Leber's hereditary optic neuropathy or dystonia.

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