Article
Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.
Biochemical and biophysical research communications - 16 Aug 1990
Bolhuis P A, Bleeker-Wagemakers E M, Ponne N J, Van Schooneveld M J, Westerveld A, Van den Bogert C, Tabak H F
Abstract excerpt
Mitochondrial DNA isolated from white blood cells was investigated in families suffering from Leber's hereditary optic neuropathy. A recently described mutation at nucleotide position 11778 was present in 5 out of 12 families and heteroplasmic mitochondrial DNA was observed in 2 of these 5 famili...
Topics
- DNA, Mitochondrial
- Diagnosis, Differential
- Female
- Genotype
- Hereditary Sensory and Motor Neuropathy
- Humans
- Leukocytes
- Male
- Mutation
- Optic Atrophies, Hereditary
- Time Factors