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The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.

Laura KytövuoriMaria GardbergKari MajamaaMika H Martikainen
Published in: Brain and behavior (2017)
Our results suggest that, in addition to sensorineural HI, the m.7510T>C mutation is associated with a spectrum of mitochondrial disease clinical features including migraine, epilepsy, cognitive impairment, ataxia, and tremor, and with evidence of mitochondrial myopathy.
Keyphrases
  • hearing loss
  • cognitive impairment
  • oxidative stress
  • deep brain stimulation
  • late onset
  • parkinson disease
  • early onset
  • muscular dystrophy
  • temporal lobe epilepsy