Article
[The mitochondrial genome and human mitochondrial diseases].
Genetika - 1 Feb 2002
Sukernik R I, Derbeneva O A, Starikovskaia E B, Volod'ko N V, Mikhaĭlovskaia I E, Bychkov I Iu, Lott M, Brown M, Wallace D
Abstract excerpt
To date, more than 100 point mutations and several hundreds of structural rearrangements of mitochondrial DNA (mtDNA) are known too be connected with characteristic neuromuscular and other mitochondrial syndromes varying form those causing death at the neonatal stage to diseases with late ages of onset. The immediate cause of mitochondrial disorders is a defective oxidative phosphorylation. Wide phenotypic...
Topics
- DNA, Mitochondrial
- Genetics, Population
- Genome, Human
- Humans
- Mitochondrial Diseases
- Mutation
- Protein Biosynthesis
- Proteins