Mitochondrial DNA polymorphism in Finnish families with Leber's hereditary optic neuroretinopathy
โ Scribed by Johanna Vilkki; Marja-Liisa Savontaus; Hannu Kalinmo; Eeva K. Nikoskelainen
- Publisher
- Springer
- Year
- 1989
- Tongue
- English
- Weight
- 741 KB
- Volume
- 82
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
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
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