POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype

Clin Neurol Neurosurg. 2024 Jan:236:108069. doi: 10.1016/j.clineuro.2023.108069. Epub 2023 Nov 28.
No abstract available

Keywords: MNGIE; Mitochondrial; MtDNA depletion; POLG1; Vomiting.

Publication types

  • Letter

MeSH terms

  • DNA Polymerase gamma / genetics
  • DNA, Mitochondrial / genetics
  • Humans
  • Intestinal Pseudo-Obstruction* / genetics
  • Mitochondrial Encephalomyopathies* / genetics
  • Muscular Dystrophy, Oculopharyngeal*
  • Mutation / genetics
  • Ophthalmoplegia*
  • Phenotype

Substances

  • DNA Polymerase gamma
  • DNA, Mitochondrial

Supplementary concepts

  • Visceral myopathy familial external ophthalmoplegia