Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation

Acta Neuropathol Commun. 2023 Dec 20;11(1):207. doi: 10.1186/s40478-023-01692-w.
No abstract available

Publication types

  • Letter

MeSH terms

  • Charcot-Marie-Tooth Disease* / genetics
  • Charcot-Marie-Tooth Disease* / pathology
  • GTP Phosphohydrolases / genetics
  • Genotype
  • Humans
  • Mitochondrial Proteins / genetics
  • Mutation / genetics

Substances

  • Mitochondrial Proteins
  • MFN2 protein, human
  • GTP Phosphohydrolases