Oxidative Phosphorylation Diseases

Disorders of Two Genomes
  • John M. ShoffnerIV
  • Douglas C. Wallace
Part of the Advances in Human Genetics book series (AHUG, volume 19)


The mitochondrial cytopathies are a heterogeneous group of diseases associated with defects in mitochondrial ATP production that affect the brain, skeletal muscle, heart, kidney, and liver. Mitochondria produce ATP by oxidative phosphorylation (OXPHOS). OXPHOS involves approximately 100 polypeptides, most of which are encoded in the Mendelian-inherited nuclear genes, but 13 of which are encoded in the maternally-inherited mitochondrial DNA (mtDNA).


Lactic Acidosis Myoclonic Epilepsy Mitochondrial Myopathy Adenine Nucleotide Translocase OXPHOS Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media New York 1990

Authors and Affiliations

  • John M. ShoffnerIV
    • 1
  • Douglas C. Wallace
    • 2
  1. 1.Department of NeurologyEmory UniversityAtlantaUSA
  2. 2.Departments of Biochemistry, Pediatrics, Neurology, and AnthropologyEmory UniversityAtlantaUSA

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