Screening of mutations in NOL3 in a myoclonic syndromes series

J Neurol. 2014 Sep;261(9):1830-1. doi: 10.1007/s00415-014-7463-z. Epub 2014 Aug 20.
No abstract available

Publication types

  • Letter

MeSH terms

  • Aged
  • Apoptosis Regulatory Proteins / genetics*
  • Cerebral Cortex / physiopathology*
  • Electroencephalography*
  • Female
  • Genetic Testing
  • Humans
  • Male
  • Middle Aged
  • Muscle Proteins / genetics*
  • Mutation, Missense / genetics*
  • Myoclonus / diagnosis
  • Myoclonus / genetics*
  • Myoclonus / physiopathology*
  • Phenotype
  • Syndrome

Substances

  • Apoptosis Regulatory Proteins
  • Muscle Proteins
  • NOL3 protein, human