A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family

Brain. 2021 Feb 12;144(1):e11. doi: 10.1093/brain/awaa357.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • China
  • Codon, Nonsense* / genetics
  • Humans
  • Peripheral Nervous System Diseases*
  • Phenotype
  • Spectrin

Substances

  • Codon, Nonsense
  • Spectrin