Fatigue in Primary Genetic Mitochondrial Disease: No Rest for the Weary

Fatigue in Primary Genetic Mitochondrial Disease: No Rest for the Weary, Primary Mitochondrial Diseases (PMD) are genetic disorders that arise as a result of a direct or indirect dysfunction of mitochondrial oxidative phosphorylation (OxPhos) and comprise one of the most frequent genetic metabolic disorders with an incidence of 1 in 5000 individuals. [1–5] PMDs are caused by mutations in mitochondrial DNA (mtDNA) or one of over 350 nuclear encoded genes., Primary Mitochondrial Diseases (PMD) are genetic disorders that arise as a result of a direct or indirect dysfunction of mitochondrial oxidative phosphorylation (OxPhos) and comprise one of the most frequent genetic metabolic disorders with an incidence of 1 in 5000 individuals. [1–5] PMDs are caused by mutations in mitochondrial DNA (mtDNA) or one of over 350 nuclear encoded genes. [6] While these disorders may be multisystemic or involve only a single organ, they typically impact the neurologic system., admin,