https://scholars.lib.ntu.edu.tw/handle/123456789/627659
標題: | Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia | 作者: | Chen, Pin-Shiuan MENG-CHEN WU CHUN-HWEI TAI Chang, Yung-Yee Lan, Min-Yu Chen, Ying-Fa Lin, Han-I NI-CHUNG LEE CHIN-HSIEN LIN |
關鍵字: | Dystonia; IMPDH2; Inosine monophosphate dehydrogenase gene | 公開日期: | 二月-2023 | 卷: | 107 | 起(迄)頁: | 105294 | 來源出版物: | Parkinsonism & related disorders | 摘要: | The inosine monophosphate dehydrogenase gene (IMPDH2) was recently reported as a novel gene associated with autosomal dominantly inherited dystonia. We investigated 245 Taiwanese patients with molecularly unassigned isolated or combined dystonia without features of neurodevelopmental disorders and found none had pathogenic variants. Our findings suggest that IMPDH2 may not play a major role in dystonia. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/627659 | ISSN: | 13538020 | DOI: | 10.1016/j.parkreldis.2023.105294 |
顯示於: | 醫學系 |
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