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Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.

Tomas FerreiraKiran PolavarapuCatarina OlimpioIda ParamonovHanns LochmüllerRita Horvath
Published in: Journal of neurology (2024)
Variants in mitochondrial disease genes are frequent in patients with inherited peripheral neuropathies. Due to the clinical overlap between mitochondrial disease and CMT, agnostic exome or genome sequencing have better diagnostic yields than targeted gene panels.
Keyphrases
  • copy number
  • genome wide
  • oxidative stress
  • genome wide identification
  • single cell
  • cancer therapy
  • bioinformatics analysis