A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness

J Hum Genet. 2015 Mar;60(3):161-2. doi: 10.1038/jhg.2014.120. Epub 2015 Jan 15.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Epilepsy / genetics*
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Muscle Proteins / genetics*
  • Muscle Weakness / genetics*

Substances

  • Muscle Proteins