Article
A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy.
Annals of neurology - 1 Jun 1992
Goto Y, Tojo M, Tohyama J, Horai S, Nonaka I
Abstract excerpt
A T-to-C transition mutation at nucleotide position 3,250 in the mitochondrial tRNA(Leu)(UUR) gene was present in a family with mitochondrial myopathy. Two of three muscle biopsies examined had complex I (NADH-ubiquinone oxidoreductase) deficiency. Heteroplasmy of wild and mutant mitochondrial DNA was detected by Nae I digestion of the polymerase chain reaction products with a modified primer. This was found in...
Topics
- Base Sequence
- Child
- DNA, Mitochondrial
- Female
- Humans
- Male
- Molecular Sequence Data
- Muscular Diseases
- Mutation
- NAD(P)H Dehydrogenase (Quinone)
- Pedigree
- Polymerase Chain Reaction