An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene.
Schorderet
D F
DF
Division of Medical Genetics, CHUV, Lausanne, Switzerland.
Pescia
G
G
Bernasconi
A
A
Regli
F
F
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*
D003062:Codon; D018009:Receptors, Glycine