Article
A collection of 33 novel human mtDNA homoplasmic variants.
Human mutation - 1 Nov 2002
Crimi Marco, Sciacco Monica, Galbiati Sara, Bordoni Andreina, Malferrari Giulia, Del Bo Roberto, Biunno Ida, Bresolin Nereo, Comi Giacomo P
Abstract excerpt
Mitochondria are involved in cellular energy production via oxidative phosphorylation and this function may be damaged by any mutation in mitochondrial DNA (mtDNA). To identify novel mtDNA mutations, we have developed a program to systematically screen the entire mitochondrial genome in a large number of individuals with clinical and/or morphological features of mitochondrial dysfunction, but still no genetic...
Topics
- Adult
- Aged
- Amino Acid Substitution
- Child, Preschool
- DNA, Mitochondrial
- Female
- Genetic Variation
- Humans
- Infant
- Male
- Middle Aged
- Mitochondrial Encephalomyopathies