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Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation

✍ Scribed by Wanshi Cai; Qun Fu; Xiangtian Zhou; Jia Qu; Yi Tong; Min-Xin Guan


Book ID
118651192
Publisher
Elsevier
Year
2008
Tongue
Chinese
Weight
421 KB
Volume
35
Category
Article
ISSN
1673-8527

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Leber hereditary optic neuropathy (LHON) is a major cause of inherited blindness in young males. Approximately 1 in 7 individuals with LHON harbor a mixture of mutated and wild-type (normal) mtDNA (heteroplasmy), and the risks of developing blindness in heteroplasmic LHON individuals are not well ch

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Leber's hereditary optic neuropathy (LHON) is characterized by acute or subacute bilateral (usually permanent) loss of central vision, caused by neuroretinal degeneration. The maternal inheritance is explained by the mitochondrial origin of the disease. Recently, a single mitochondrial DNA (mtDNA) m