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Pathogenic mutations in POLG

(From: National Institute of Environmental Health Sciences.)

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Associated Disorders

  • Ataxia
  • Axonal sensorimotor neuropathy
  • Cardiomyopathy
  • Cataract
  • Chorea
  • Cortical blindness
  • Dementia
  • Depression
  • Diabetes
  • Exercise intolerance
  • Focal motor seizures
  • Gastrointestinal dysmotility
  • Generalized seizures
  • Liver failure
  • Migraine
  • Myoclonus
  • Parkinsonism
  • Primary ovarian failure
  • Primary testicular failure
  • Proximal myopathy
  • Psychosis
  • Ptosis and external ophthalmoparesis (PEO or CPEO)
  • Retinopathy
  • Sensorineural deafness
  • Sensory neuropathy/ganglionopathy
  • Stroke-like episodes