Article
Leber's hereditary optic neuropathy is potentially associated with a novel m.5587T>C mutation in two pedigrees.
Molecular medicine reports - 1 Dec 2017
Ji Yanchun, Qiao Lihua, Liang Xiaoyang, Zhu Ling, Gao Yinglong, Zhang Juanjuan, Jia Zidong, Wei Qi-Ping, Liu Xiaoling, Jiang Pingping, Guan Min-Xin
Abstract excerpt
Mitochondrial (mt)DNA mutations have been revealed to be associated with Leber's hereditary optic neuropathy (LHON). The present study conducted clinical, genetic and molecular evaluations of two Han Chinese families. A total of 4 (3 men and 1 female) out of 14 matrilineal relatives in the families exhibited visual impairment with variable severity and age of onset. The average age of onset of visual loss was...
Topics
- Adolescent
- Adult
- Aged
- Asian People
- Base Sequence
- Child
- DNA Mutational Analysis
- DNA, Mitochondrial
- Family
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Humans