Article
Human mitochondrial diseases: answering questions and questioning answers.
International review of cytology - 1 Jan 1999
Howell N
Abstract excerpt
Since the first identification in 1988 of pathogenic mitochondrial DNA (mtDNA) mutations, the mitochondrial diseases have emerged as a major clinical entity. The most striking feature of these disorders is their marked heterogeneity, which extends to their clinical, biochemical, and genetic chara...
Topics
- DNA Repair
- DNA, Mitochondrial
- Evolution, Molecular
- Female
- Genome, Human
- Humans
- MELAS Syndrome
- MERRF Syndrome
- Mitochondrial Encephalomyopathies
- Mitochondrial Myopathies
- Models, Biological
- Mutation
- Optic Atrophies, Hereditary