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

doi:10.3724/sp.j.1005.2011.00322

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Article

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

Yi chuan = Hereditas - 1 Apr 2011

Ji Yan-Chun, Liu Xiao-Ling, Zhao Fu-Xin, Zhang Juan-Juan, Zhang Yu, Zhou Xiang-Tian, Qu Jia, Guan Min-Xin

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) associated with mitochondrial DNA mutation is a maternally inherited eye disease. We reported here the clinical, genetic and molecular characterization of two Han Chinese families with Leber's hereditary optic neuropathy. Ophthalmologic examinations revealed that the variable severity and age-of-onset in visual impairment among probands and other matrilineal relatives of...

Topics

Adolescent
DNA, Mitochondrial
Electron Transport Complex I
Female
Humans
Male
Mitochondrial Proteins
Mutation
Optic Atrophy, Hereditary, Leber

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Open in PubMed

Identifiers

PMID: 21482521
DOI: 10.3724/sp.j.1005.2011.00322

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