Article
The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain.
Biochemical and biophysical research communications - 24 Oct 1995
Oostra R J, Van Galen M J, Bolhuis P A, Bleeker-Wagemakers E M, Van den Bogert C
Abstract excerpt
The electron transfer activity of Complex I of the respiratory chain and Complex I-linked ATP synthesis were investigated in leukocytes of four males affected by Leber hereditary optic neuropathy and a mutation in the ND6 gene at nucleotide position 14,484 of mtDNA. The electron transfer activity...
Topics
- Adenosine Triphosphate
- Citrate (si)-Synthase
- DNA, Mitochondrial
- Genetic Carrier Screening
- Humans
- Kinetics
- Leukocytes
- Male
- NAD(P)H Dehydrogenase (Quinone)
- Optic Atrophies, Hereditary
- Phenotype
- Point Mutation
- Reference Values