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Article

Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families.

Human genetics - 1 Jul 2001

Brown M D, Zhadanov S, Allen J C, Hosseini S, Newman N J, Atamonov V V, Mikhailovskaya I E, Sukernik R I, Wallace D C

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is characterized by maternally transmitted, bilateral, central vision loss in young adults. It is caused by mutations in the mitochondrial DNA (mtDNA) encoded genes that contribute polypeptides to NADH dehydrogenase or complex I. Four mtDNA variants, the nucleotide pair (np) 3460A, 11778A, 14484C, and 14459A mutations, are known as "primary" LHON mutations and are found...

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Identifiers

PMID: 11479733
DOI: 10.1007/s004390100538

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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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