Article
No genetic differences between affected and unaffected members of a German family with Leber's hereditary optic neuropathy (LHON) with respect to ten mtDNA point mutations associated with LHON.
FEBS letters - 21 Dec 1992
Gerbitz K D, Paprotta A, Obermaier-Kusser B, Rietschel M, Zerres K
Abstract excerpt
In order to investigate possible synergistic influences of different mtDNA mutations on penetrance and severity of Leber's hereditary optic neuropathy (LHON), a large German LHON pedigree is characterized with respect to 10 different mutations associated with LHON. All members of the family carry three different mtDNA mutations (at nucleotide 4,216, 11,778 and 13,708) in a homoplasmic form, regardless of whether...
Topics
- Base Sequence
- DNA Mutational Analysis
- DNA, Mitochondrial
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Optic Atrophies, Hereditary
- Pedigree
- Point Mutation