Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.

doi:10.1086/519394

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Article

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.

American journal of human genetics - 1 Aug 2007

Hudson Gavin, Carelli Valerio, Spruijt Liesbeth, Gerards Mike, Mowbray Catherine, Achilli Alessandro, Pyle Angela, Elson Joanna, Howell Neil, La Morgia Chiara, Valentino Maria Lucia, Huoponen Kirsi, Savontaus Marja-Liisa, Nikoskelainen Eeva, Sadun Alfredo A, Salomao Solange R, Belfort Rubens, Griffiths Philip, Yu-Wai-Man Patrick, de Coo Rene F M, Horvath Rita, Zeviani Massimo, Smeets Hubert J T, Torroni Antonio, Chinnery Patrick F

Abstract excerpt

Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional genetic or environmental factors in the pathophysiology of the disorder. Both the 11778G-->A and 14484T-->C LHON mutations are preferentially found on a specific mtDNA genetic background, but 3460G-->A is not. However, there is no clear...

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PMID: 17668373
DOI: 10.1086/519394
PMCID: PMC1950812

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.PMID 17668373Read ↗

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