Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families.

doi:10.1016/j.bbrc.2005.11.150

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Article

Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families.

Biochemical and biophysical research communications - 3 Feb 2006

Zhou Xiangtian, Wei Qiping, Yang Li, Tong Yi, Zhao Fuxin, Lu Chunjie, Qian Yaping, Sun Yanghong, Lu Fan, Qu Jia, Guan Min-Xin

Abstract excerpt

We report here the clinical, genetic, and molecular characterization of five Chinese families with Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. Strikingly, there were extremely low penetrances of visual impairment in these Chinese families. Sequence analysis of the complete mitochondrial genomes...

Topics

Adolescent
Adult
Child
China
DNA Mutational Analysis
DNA, Mitochondrial
Family
Female
Genetic Predisposition to Disease
Genetic Testing
Humans
Incidence
Male
NADH Dehydrogenase

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Optic Atrophy, Hereditary, Leber

Pedigree

Penetrance

Polymorphism, Genetic

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Open in PubMed

Identifiers

PMID: 16364244
DOI: 10.1016/j.bbrc.2005.11.150

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