The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation

Mov Disord. 2016 Feb;31(2):257-8. doi: 10.1002/mds.26549. Epub 2016 Jan 22.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Parkinson Disease / diagnosis*
  • Parkinson Disease / genetics*
  • Pedigree
  • Phenotype
  • alpha-Synuclein / genetics*

Substances

  • SNCA protein, human
  • alpha-Synuclein