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Neuropathy, ataxia, retinitis pigmentosa: a case of a mother and two siblings.

Mark RabinovichOlivia ZambrowskiAlexandra MiereRakia BhouriEric Souied
Published in: Ophthalmic genetics (2023)
Once genetically established, NARP syndrome, as other mitochondrial disorders, has a very variable progression with different degrees of severity. A multimodal approach involving both neurological and ophthalmological diagnosis of NARP syndrome is necessary in order to establish the course of the disease and the measures to be taken.
Keyphrases
  • case report
  • oxidative stress
  • intellectual disability
  • brain injury
  • chronic pain
  • blood brain barrier
  • cerebral ischemia