MITOCHONDRIAL DNA MUTATION IN FAMILY WITH LEBER'S HEREDITARY OPTIC NEUROPATHY
β Scribed by Yoneda, Makoto; Tsuji, Shoji; Yamauchi, Toyoaki; Inuzuka, Takashi; Miyatake, Tadashi; Horai, Satoshi; Ozawa, Takayuki
- Book ID
- 123175600
- Publisher
- The Lancet
- Year
- 1989
- Tongue
- English
- Weight
- 419 KB
- Volume
- 333
- Category
- Article
- ISSN
- 0140-6736
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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
Mitochondrial (mt) DNA from a Southern Italian family with Leber hereditary optic neuropathy was analyzed for the presence of the reported mutation at position 11778 of the ND4 subunit gene. The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with the