Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5

Chen, PS; Lee, NC; Sung, CJ; Liu, YW; Weng, WC; Fan, PC; Lee, WT; Chien, YH; Wu, CS; Sung, YF; Tsai, MC; Lee, YC; Hsueh, HW; Fan, SMY; Wu, MC; Li, H; Chen, HY; Lin, H; Ou-Yang, CH; Hwuh, WL; Lin, CH

Lin, CH (通讯作者)，Natl Taiwan Univ Hosp, Dept Neurol, 7, Chung Shan South Rd, Taipei 100, Taiwan.

MOVEMENT DISORDERS, 2023; 38 (12): 2217

Abstract

Background: Rare mutations in NADH:ubiquinone oxidoreductase complex assembly factor 5 (NDUFAF5) are linked to Leigh syndrome. Objective: We aimed to ......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索