Mitochondrial diseases, arising from mutations in mitochondrial DNA (mtDNA), are a diverse group of disorders that lead to severe conditions. Expression of mtDNA is a prerequisite for ATP production ...

Proceedings of the National Academy of Sciences 102, 4990-4995 (2005) Taylor, R. W., & Turnbull, D. M. Mitochondrial DNA mutations in human disease. Nature Reviews Genetics 6, 389-402 (2005 ...

Higher levels in blood of SLSMD heteroplasmy—a phenomenon unique to mtDNA reflecting the presence of both normal and deleted genomes in a patient—correlated with earlier age of disease onset.