Charcot-Marie-Tooth disease type 2S: identical novel missense mutation of IGHMBP2 gene in two unrelated families

Neurol Sci. 2022 Jan;43(1):719-722. doi: 10.1007/s10072-021-05668-3. Epub 2021 Oct 20.
No abstract available

Publication types

  • Letter

MeSH terms

  • Charcot-Marie-Tooth Disease* / genetics
  • DNA-Binding Proteins* / genetics
  • Humans
  • Mutation, Missense
  • Pedigree
  • Phenotype
  • Transcription Factors* / genetics

Substances

  • DNA-Binding Proteins
  • IGHMBP2 protein, human
  • Transcription Factors