title: Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.
authors: Eun Joo
authors: EJ
authors: Chung
authors: Won Yong
authors: WY
authors: Lee
authors: Ji-Youn
authors: JY
authors: Kim
authors: Jong-Hun
authors: JH
authors: Kim
authors: Gyeong-Moon
authors: GM
authors: Kim
authors: Chang Seok
authors: CS
authors: Ki
authors: In-Suk
authors: IS
authors: Kim
mesh_terms: 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*
chemical_list: D049031:Sarcoglycans