Article
Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees.
Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis - 1 May 2017
Xie Shipeng, Zhang Juanjuan, Sun Jiji, Zhang Minglian, Zhao Fuxin, Wei Qi-Ping, Tong Yi, Liu Xiaoling, Zhou Xiangtian, Jiang Pingping, Ji Yanchun, Guan Min-Xin
Abstract excerpt
Leber's hereditary optic neuropathy (LHON) is one of the most common mitochondrial disorders. We report here the clinical, genetic and molecular analysis of mitochondrial DNA (mtDNA) in eight Han Chinese families carrying the known mitochondrial 11778G > A(MT-ND4) mutation. Thirty-seven (26 males/11 females) of 77 matrilineal relatives in these families exhibited the variable severity and age-at-onset of optic...
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