Article
A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.
Nature genetics - 1 Jun 1994
Ryan S G, Buckwalter M S, Lynch J W, Handford C A, Segura L, Shiang R, Wasmuth J J, Camper S A, Schofield P, O'Connell P
Abstract excerpt
Hereditary hyperekplexia, an autosomal dominant neurologic disorder characterized by an exaggerated startle reflex and neonatal hypertonia, can be caused by mutations in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor (GLRA1). Spasmodic (spd), a recessive neurologic mouse mutant, resembles hyperekplexia phenotypically, and the two disease loci map to homologous chromosomal regions. Here...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.