Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

N Engl J Med. 2019 Aug 1;381(5):486-488. doi: 10.1056/NEJMc1905039. Epub 2019 Jul 17.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Fibroblasts / pathology*
  • Homozygote
  • Humans
  • Motor Neuron Disease / genetics*
  • Mutation*
  • Phenotype
  • Superoxide Dismutase-1 / chemistry
  • Superoxide Dismutase-1 / genetics*
  • Superoxide Dismutase-1 / metabolism

Substances

  • SOD1 protein, human
  • Superoxide Dismutase-1