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  • Title: [Mitochondrial DNA mutation in Leber's hereditary optic neuropathy in China].
    Author: Zhang LS, Huang Y, Li FY.
    Journal: Zhonghua Yi Xue Za Zhi; 1994 Jun; 74(6):349-51, 390. PubMed ID: 7994643.
    Abstract:
    Leber's hereditary optic neuropathy (LHON), a typical maternally inherited disease, is caused by a single nucleotide change of G to A at the site of nucleotide 11,788 of mtDNA. We used PCR method to analysis mtDNA from 102 individuals of nineteen pedigrees. The results showed that 67% of the patients (30/45) and 55% (29/53) of the maternal relatives have such a mutation, while no mutation exists in the four normal individuals. The results show that Wallace's mutation is a main cause of LHON in China.
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