CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia

Brain. 2016 Feb;139(Pt 2):e9. doi: 10.1093/brain/awv223. Epub 2015 Sep 11.
No abstract available

Publication types

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

MeSH terms

  • Amyotrophic Lateral Sclerosis / diagnosis
  • Amyotrophic Lateral Sclerosis / genetics*
  • Cohort Studies
  • Frontotemporal Dementia / diagnosis
  • Frontotemporal Dementia / genetics*
  • Genetic Variation / genetics*
  • Humans
  • Mitochondrial Proteins / genetics*
  • Mutation / genetics
  • Penetrance*
  • Proline / genetics
  • Serine / genetics

Substances

  • CHCHD10 protein, human
  • Mitochondrial Proteins
  • Serine
  • Proline