Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families.

Investigative ophthalmology & visual science - 9 Jul 2012

Zhou Xiangtian, Qian Yaping, Zhang Juanjuan, Tong Yi, Jiang Pingping, Liang Min, Dai Xianning, Zhou Huihui, Zhao Fuxin, Ji Yanchun, Mo Jun Qin, Qu Jia, Guan Min-Xin

Abstract excerpt

PURPOSE: To investigate the pathophysiology of Leber's hereditary optic neuropathy (LHON). METHODS: Seventy-one subjects from three Chinese families with LHON underwent clinical, genetic, molecular, and biochemical evaluations. Biochemical characterizations included the measurements of the rates of endogenous, substrate-dependent respirations, the adenosine triphosphate (ATP) production and generation of reactive...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cells, Cultured
Share to China

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

Share to DNA, Mitochondrial

Share to Family

Share to Follow-Up Studies

Share to Genes, Mitochondrial

Share to NADH Dehydrogenase

Share to Optic Atrophy, Hereditary, Leber

Source

Open in PubMed Open full text

Identifiers

PMID: 22577081
DOI: 10.1167/iovs.11-9109
PMCID: PMC3394694

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families.PMID 22577081Read ↗

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

Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy.Semantic proximity Read ↗

Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Leber's hereditary optic neuropathy: a multifactorial disease.Semantic proximity Read ↗

Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C.Semantic proximity Read ↗

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

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

[The role of MT-ND1 m.3635G>A mutation in Leber's hereditary optic neuropathy].Semantic proximity Read ↗

Analysis of Three Primary mtDNA Mutations in 155 Patients with Leber’s Hereditary Optic NeuropathySemantic proximity Read ↗

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

Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.Semantic proximity Read ↗

Leber hereditary optic neuropathy-new insights and old challenges.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.