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Article

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

Brain : a journal of neurology - 1 Jan 2001

Chinnery P F, Brown D T, Andrews R M, Singh-Kler R, Riordan-Eva P, Lindley J, Applegarth D A, Turnbull D M, Howell N

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a common cause of bilateral optic nerve disease. The majority of LHON patients harbour one of three point mutations of the mitochondrial DNA (mtDNA) complex I, or NADH:ubiquinone oxidoreductase (ND) genes (G11778A in ND4, G3460A in ND1, T14484C in ND6). As a consequence, screening for these mutations has become part of the routine clinical investigation of young...

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PMID: 11133798
DOI: 10.1093/brain/124.1.209

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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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The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.PMID 11133798Read ↗

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