An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene

Hum Mol Genet. 1994 Jul;3(7):1201. doi: 10.1093/hmg/3.7.1201.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Codon / genetics
  • Female
  • Genes
  • Humans
  • Male
  • Myoclonus / genetics*
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Receptors, Glycine / genetics*
  • Reflex, Abnormal / genetics*
  • Reflex, Startle / genetics*

Substances

  • Codon
  • Receptors, Glycine