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Novel A14841G mutation is associated with high penetrance of LHON/C4171A family.

Biochemical and biophysical research communications - 4 Sept 2009

Yang Juhua, Zhu Yihua, Chen Lu, Zhang Hongxing, Tong Yi, Huang Dinggou, Zhang Zhiqiang, Chen Shi, Han Xiaoli, Ma Xu

Abstract excerpt

We report the clinical and genetic characterization of a Chinese LHON family carrying an ND1/C4171A mutation. This family has high penetrance of visual impairment and extremely low frequency of vision recovery, which is in marked contrast to previously reported results for Korean LHON families with the same mutation. Sequence analysis of the complete mtDNA in the partially defined East Asian haplogroup N9a1...

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Identifiers

PMID: 19555656
DOI: 10.1016/j.bbrc.2009.06.102

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel A14841G mutation is associated with high penetrance of LHON/C4171A family.PMID 19555656Read ↗

Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation.Semantic proximity Read ↗

The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations.Semantic proximity Read ↗

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

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

Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.Semantic proximity Read ↗

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

T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family.Semantic proximity Read ↗

Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON‑related ND4 11778G>A mutation in a family.Semantic proximity Read ↗

The mitochondrial tRNA(Glu) A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy.Semantic proximity Read ↗

The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation.Semantic proximity Read ↗

Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese.Semantic proximity Read ↗

Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy.Semantic proximity Read ↗

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