Sensory motor ataxic neuropathy associated dysarthria and ophthalmoplegia "SMANDO" in a consanguineous Moroccan patient with new POLG gene homozygote mutation

Rev Neurol (Paris). 2021 Jan-Feb;177(1-2):144-146. doi: 10.1016/j.neurol.2020.04.018. Epub 2020 Jul 7.
No abstract available

Publication types

  • Letter

MeSH terms

  • Consanguinity
  • DNA Polymerase gamma / genetics
  • DNA, Mitochondrial
  • Dysarthria* / genetics
  • Homozygote
  • Humans
  • Mutation
  • Ophthalmoplegia* / complications
  • Ophthalmoplegia* / diagnosis
  • Ophthalmoplegia* / genetics

Substances

  • DNA, Mitochondrial
  • DNA Polymerase gamma
  • POLG protein, human