Article
Oxidative phosphorylation diseases and cerebellar ataxia.
Clinical neuroscience (New York, N.Y.) - 1 Jan 1995
Shoffner J M, Kaufman A, Koontz D, Krawiecki N, Smith E, Topp M, Wallace D C
Abstract excerpt
Oxidative phosphorylation (OXPHOS) diseases can be caused by mutations in nuclear genes or mitochondrial DNA (mtDNA) genes. mtDNA mutations include complex mtDNA rearrangements in which large segments of mtDNA are duplicated or deleted and point mutations in which single nucleotide substitutions occur within transfer RNA (tRNA) genes, ribosomal RNA (rRNA) genes, or mitochondrial genes encoding OXPHOS...
Topics
- Adult
- Cerebellar Ataxia
- DNA, Mitochondrial
- Female
- Gene Rearrangement
- Humans
- Male
- Middle Aged
- Mutation
- Oxidative Phosphorylation