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Article

Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.

Annals of neurology - 1 Jun 2002

Valentino Maria Lucia, Avoni Patrizia, Barboni Piero, Pallotti Francesco, Rengo Chiara, Torroni Antonio, Bellan Marzio, Baruzzi Agostino, Carelli Valerio

Abstract excerpt

A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber's hereditary optic neuropathy with visual recovery in an Italian family. These equivalent changes are the fifth pathogenic mutation for pure Leber's hereditary optic neuropathy. This confirms that the ND6 gene of complex I is a mutational hot spot and suggests that...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 12112086
DOI: 10.1002/ana.10193

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.PMID 12112086Read ↗

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