Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.
Chung
Eun Joo
EJ
Lee
Won Yong
WY
Kim
Ji-Youn
JY
Kim
Jong-Hun
JH
Kim
Gyeong-Moon
GM
Ki
Chang Seok
CS
Kim
In-Suk
IS
D044466:Asian People / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging; D002533:Cerebral Angiography; D003937:Diagnosis, Differential; D004421:Dystonia / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D006801:Humans; D007723:Korea; D008875:Middle Aged; D009072:Moyamoya Disease / Q000175:diagnosis*; D009154:Mutation / Q000235:genetics*; D009207:Myoclonus / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D049031:Sarcoglycans / Q000235:genetics*
D049031:Sarcoglycans