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NARP

Authoring team

This degenerative neurological disease is caused by a maternally-inherited mutation at position 8993 in the mitochondrial genome. This nonsense mutation disrupts the ATPase 6 gene, which is essential for oxidative phosphorylation.

The clinical features of the disease are:

  • developmental delay
  • ataxia
  • retinitis pigmentosa
  • muscle weakness
  • seizures
  • dementia

The higher the proportion of mutant mitochondria in a patient, the more severe the clinical picture.


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