Article
[Analysis of mutations and heteroplasmy at mitochondrial DNA 11778 using non-RI single strand conformation polymorphisms in Leber's hereditary optic neuropathy].
Rinsho byori. The Japanese journal of clinical pathology - 1 Jul 1996
Toyo-Oka Y, Wada C, Yamabe H, Inoue M, Ishigaki M, Matsuyama N, Ohnuki Y, Ichibe Y, Wakakura M, Ohtani H
Abstract excerpt
Leber's hereditary optic neuropathy(LHON) is a maternally inherited mitochondrial disease of an acute or subacute bilateral loss of central vision. G to A substitutions at nucleotide position 11778 in mitochondrial DNA(mt DNA) have been identified in approximately 40% to 90% of patients. In this...
Topics
- Base Sequence
- DNA, Mitochondrial
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Optic Atrophies, Hereditary
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational