Mitochondria are double‐membrane‐bound organelles that are present in all nucleated
eukaryotic cells and are responsible for the production of cellular energy in the form of ATP …

Mutations in the human mitochondrial genome are known to cause an array of diverse
disorders, most of which are maternally inherited, and all of which are associated with …

Mutations in the mitochondrial DNA (mtDNA) are responsible for several metabolic
disorders, commonly involving muscle and the central nervous system. Because of the …

The study of mitochondrial diseases has revealed dramatic variability in the phenotypic
presentation of mitochondrial genetic defects. To attempt to understand this variability …

This review focuses on mutations of mitochondrial DNA (mtDNA) which are an important
cause of mitochondrial disorders in humans and are also associated with common …

The small, maternally inherited mitochondrial DNA (mtDNA) has turned out to be a
Pandora's box of pathogenic mutations: 13 years into the era of “molecular mitochondrial …

We have generated an animal model for mitochondrial myopathy by disrupting the gene for
mitochondrial transcription factor A (Tfam) in skeletal muscle of the mouse. The knockout …

Approximately three years ago, this journal published a review on the clinical and molecular
analysis of mitochondrial encephalomyopathies, with emphasis on defects in mitochondrial …

Mutations in the mitochondrial DNA (mtDNA) can cause a variety of human diseases. In
most cases, such mutations are heteroplasmic (ie mutated and wild-type mtDNA coexist) …

Although mitochondrial DNA deletions have been shown to accumulate in cytochrome c
oxidase deficient muscle fibres of ageing muscle, this has not been demonstrated for point …