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Keyword - Primary mitochondrial disease (KW-1274)

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Protein which, if defective, causes any one of a clinically heterogeneous group of disorders arising from dysfunction of the mitochondrial respiratory chain. The phenotypic spectrum ranges from isolated diseases affecting single organs to severe multisystem disorders. Common clinical features include ptosis, external ophthalmoplegia, proximal myopathy and exercise intolerance, cardiomyopathy, sensorineural deafness, optic atrophy, pigmentary retinopathy, encephalopathy, seizures, stroke-like episodes, ataxia, and spasticity. Mitochondrial disorders can be caused by mutations of mitochondrial DNA or nuclear DNA that either affect oxidative phosphorylation proteins directly, or affect respiratory chain function by impacting the production of the complex machinery needed to run this process.


  • Mitochondrial disorder
  • Mitochondrial encephalomyopathy
  • Mitochondrial myopathy
  • Oxidative phosphorylation disorder
  • PMD
  • Respiratory chain disorder




Primary mitochondrial diseaseDisease
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