Focal brain glucose hypermetabolism in myoclonus-dystonia syndrome caused by an epsilon-sarcoglycan gene mutation.
Tai
Chun-Hwei
CH
Yen
Ruoh-Fan
RF
Lin
Chin-Hsien
CH
Yen
Kuo-Yang
KY
Yip
Ping-Keung
PK
Wu
Ruey-Meei
RM
Lee
Ming-Jen
MJ
D000328:Adult; D001921:Brain / Q000378:metabolism*; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D005260:Female; D019788:Fluorodeoxyglucose F18; D005947:Glucose / Q000378:metabolism*; D044882:Glucose Metabolism Disorders / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D049031:Sarcoglycans / Q000235:genetics*; D013577:Syndrome
D049031:Sarcoglycans; D019788:Fluorodeoxyglucose F18; D005947:Glucose