Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C

J Med Genet. 2001 Jun;38(6):E17. doi: 10.1136/jmg.38.6.e17.
No abstract available

Publication types

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

MeSH terms

  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Muscle Hypotonia / genetics*
  • Mutation, Missense*
  • Pedigree
  • Penetrance
  • Receptors, Glycine / genetics*
  • Reflex, Startle / genetics*

Substances

  • GLRA1 protein, human
  • Receptors, Glycine