The article is a review of the mitochondrion; its own genetic material …

• Abstract
• Historical introduction
• What are mitochondria and what do they do?
• The genetic basis of mitochondrial biogenesis
• Mitochondrial disease: genotype and phenotype
• Mitochondrial genetic factors
• Confirming suspected mitochondrial disease
• Managing mitochondrial disease - the future
• Animal models
• Conclusions
• Box 1
• Glossary
• Acknowledgements
• References
• Figures
• Tables

PFC is funded by the Wellcome Trust and Ataxia (UK). EAS is funded by the US National Institutes of Health, the Muscular Dystrophy Association, and the National Organisation for Rare Diseases. We are grateful to Dr Zofia Chrzanowska-Lightowlers for fig 2.