https://scholars.lib.ntu.edu.tw/handle/123456789/636444
標題: | Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5 | 作者: | Chen, Pin-Shiuan NI-CHUNG LEE Sung, Chieh-Ju YA-WEN LIU WEN-CHIN WENG PI-CHUAN FAN WANG-TSO LEE YIN-HSIU CHIEN Wu, Chao-Szu Sung, Yueh-Feng Tsai, Ming-Chen Lee, Yi-Chung HSUEH-WEN HSUEH Fan, Sabrina Mai-Yi MENG-CHEN WU Li, Hsun Chen, Huan-Yun Lin, Han-I Ou-Yang, Chih-Hsin Hwuh, Wuh-Liang CHIN-HSIEN LIN |
關鍵字: | Leigh syndrome; NDUFAF5; dystonia; mitochondria; mitochondrial complex I deficiency; striatal necrosis | 公開日期: | 十二月-2023 | 卷: | 38 | 期: | 12 | 起(迄)頁: | 2217 | 來源出版物: | Movement disorders : official journal of the Movement Disorder Society | 摘要: | Rare mutations in NADH:ubiquinone oxidoreductase complex assembly factor 5 (NDUFAF5) are linked to Leigh syndrome. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/636444 | ISSN: | 08853185 | DOI: | 10.1002/mds.29604 |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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