Does a mutation of the glycine receptor modify GABA metabolism in startle disease?
Berthier
M
M
Oriot
D
D
Bonneau
D
D
Jaeken
J
J
D006801:Humans; D007223:Infant; D009127:Muscle Rigidity / Q000235:genetics*; D017354:Point Mutation; D018009:Receptors, Glycine / Q000235:genetics*; D012021:Reflex, Abnormal; D013216:Reflex, Startle; D005680:gamma-Aminobutyric Acid / Q000378:metabolism*
D018009:Receptors, Glycine; D005680:gamma-Aminobutyric Acid