Article
Mitochondrial mutations: genotype to phenotype.
Novartis Foundation symposium - 1 Jan 2007
Schon Eric A, DiMauro Salvatore
Abstract excerpt
Diseases associated with defects of the mitochondrial respiratory chain fall into four major categories: (1) those due to mutations in respiratory chain subunits; (2) those due to mutations that affect respiratory chain assembly; (3) those due to mutations that affect respiratory chain function indirectly, either via alterations in the translation of mtDNA-encoded polypeptides or via alterations in mtDNA...
Topics
- DNA, Mitochondrial
- Electron Transport
- Genotype
- Humans
- Mitochondria
- Mitochondrial Diseases
- Mitochondrial Proteins
- Mutation
- Phenotype