POLG mutations presenting as Charcot-Marie-Tooth disease

J Peripher Nerv Syst. 2019 Jun;24(2):213-218. doi: 10.1111/jns.12313. Epub 2019 Apr 10.


We report on two patients, with different POLG mutations, in whom axonal neuropathy dominated the clinical picture. One patient presented with late onset sensory axonal neuropathy caused by a homozygous c.2243G>C (p.Trp748Ser) mutation that resulted from uniparental disomy of the long arm of chromosome 15. The other patient had a complex phenotype that included early onset axonal Charcot-Marie-Tooth disease (CMT) caused by compound heterozygous c.926G>A (p.Arg309His) and c.2209G>C (p.Gly737Arg) mutations.

Keywords: mitochondria; neuropathy; uniparental disomy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Charcot-Marie-Tooth Disease / diagnosis*
  • Charcot-Marie-Tooth Disease / genetics
  • DNA Polymerase gamma / genetics*
  • Diagnosis, Differential
  • Electrodiagnosis
  • Female
  • Humans
  • Middle Aged
  • Mutation*
  • Neural Conduction / physiology*
  • Pedigree
  • Peripheral Nervous System Diseases / diagnosis*
  • Peripheral Nervous System Diseases / genetics
  • Phenotype


  • DNA Polymerase gamma
  • POLG protein, human