Article
Candidate Modifier Genes for the Penetrance of Leber's Hereditary Optic Neuropathy.
International journal of molecular sciences - 6 Oct 2022
Cheng Hui-Chen, Chi Sheng-Chu, Liang Chiao-Ying, Yu Jenn-Yah, Wang An-Guor
Abstract excerpt
Leber’s hereditary optic neuropathy (LHON) is a maternally transmitted disease caused by mitochondria DNA (mtDNA) mutation. It is characterized by acute and subacute visual loss predominantly affecting young men. The mtDNA mutation is transmitted to all maternal lineages. However, only approximately 50% of men and 10% of women harboring a pathogenic mtDNA mutation develop optic neuropathy, reflecting both the...
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