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A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy

โœ Scribed by M. Mimaki; A. Ikota; A. Sato; H. Komaki; J. Akanuma; I. Nonaka; Y. Goto


Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
229 KB
Volume
48
Category
Article
ISSN
1435-232X

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Leber hereditary optic neuropathy: Does
โœ Chinnery, Patrick F. ;Andrews, Richard M. ;Turnbull, Douglass M. ;Howell, Neil ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 209 KB ๐Ÿ‘ 2 views

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