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

Mitochondrion - 1 Jun 2008

Zhang Shirong, Wang Lejin, Hao Yansheng, Wang Pengyun, Hao Ping, Yin Ke, Wang Qing K, Liu Mugen

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a maternally inherited ocular disease which has been associated with three primary mitochondrial DNA mutations: G3640A, G11778A, and T14484C. In this study, we clinically characterized a Chinese family with complete penetrance of LHON. The patients in the family presented with variable clinical features. By direct DNA sequence analysis, we identified both T14484C...

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Source

Identifiers

PMID: 18440284
DOI: 10.1016/j.mito.2008.02.003

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family.PMID 18440284Read ↗

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