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Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye.

Eleonora MauriRobertino DilenaAntonio BoccazziDario RonchiDaniela PigaFabio TriulziDelia GagliardiRoberta BrusaIrene FaravelliNereo BresolinFrancesca MagriStefania CortiGiacomo Pietro Comi
Published in: BMC neurology (2018)
Our case reports a novel pediatric clinical manifestation associated with the m.3460G > A mtDNA mutation, broadening the clinical spectrum of this disease. Early identification of new cases and monitoring of carriers beginning in childhood is important to prevent neurological deterioration and preserve long-term function.
Keyphrases
  • spinal cord
  • liver failure
  • mitochondrial dna
  • respiratory failure
  • copy number
  • neuropathic pain
  • childhood cancer
  • gene expression
  • young adults
  • extracorporeal membrane oxygenation