Identical twins with the C9orf72 repeat expansion are discordant for ALS

Neurology. 2014 Oct 14;83(16):1476-8. doi: 10.1212/WNL.0000000000000886. Epub 2014 Sep 10.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / physiopathology*
  • Blotting, Southern
  • C9orf72 Protein
  • DNA Methylation
  • DNA Mutational Analysis
  • DNA Repeat Expansion*
  • Epigenomics
  • Female
  • Humans
  • Middle Aged
  • Pedigree
  • Proteins / genetics*
  • Proteins / metabolism
  • Twins, Monozygotic / genetics*
  • White People / genetics

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • Proteins