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Article

Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation.

Journal of genetics and genomics = Yi chuan xue bao - 1 Nov 2008

Cai Wanshi, Fu Qun, Zhou Xiangtian, Qu Jia, Tong Yi, Guan Min-Xin

Abstract excerpt

We report here the characterization of a five-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON). Strikingly, this Chinese family displayed high penetrance and expressivity of visual loss. The average age-of-onset of vision loss was 18 years in this family. Nineteen (11...

Topics

Adolescent
Adult
Base Sequence
Child
China
DNA Mutational Analysis
DNA, Mitochondrial
Ethnicity
Female
Humans
Male
Mitochondria

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

NADH Dehydrogenase

Optic Atrophy, Hereditary, Leber

Pedigree

Phenotype

Source

Identifiers

PMID: 19022198
DOI: 10.1016/S1673-8527(08)60086-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-19022198-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation.PMID 19022198Read ↗

Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation.Semantic proximity Read ↗

Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families.Semantic proximity Read ↗

Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.Semantic proximity Read ↗

Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.Semantic proximity Read ↗

Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.Semantic proximity Read ↗

Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.Semantic proximity Read ↗

Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees.Semantic proximity Read ↗

Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation.Semantic proximity Read ↗

[The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families].Semantic proximity Read ↗

Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.Semantic proximity Read ↗

Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.Semantic proximity Read ↗

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