title: An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene.
authors.affiliation: Division of Medical Genetics, CHUV, Lausanne, Switzerland.
authors.forename: D F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: G
authors.initials: G
authors.lastname: Pescia
authors.forename: A
authors.initials: A
authors.lastname: Bernasconi
authors.forename: F
authors.initials: F
authors.lastname: Regli
mesh_terms: D000293:Adolescent; D003062:Codon / Q000235:genetics; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D009207:Myoclonus / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018009:Receptors, Glycine / Q000235:genetics*; D012021:Reflex, Abnormal / Q000235:genetics*; D013216:Reflex, Startle / Q000235:genetics*
chemical_list: D003062:Codon; D018009:Receptors, Glycine