Article
Clinical Spectrum, Heteroplasmy-Phenotype Correlation, and Prognosis of the MT-ND3 m.10191 T > C Mutation.
CNS neuroscience & therapeutics - 1 Jun 2026
He Zimeng, Jiang Huafang, Li Tongyue, Liu Yang, Zou Ying, Xu Chaolong, Liu Zhimei, Shen Danmin, Duan Ruoyu, Song Minhan, Zhang Yunxi, Zhang Zixuan, Sun Mingxi, Shen Rui, Xue Hong, Fang Fang
Abstract excerpt
AIM: To systematically characterize the phenotypic spectrum, neuroimaging features, heteroplasmy-phenotype correlation, and prognosis of the m.10191 T > C mutation. METHODS: We collected and analyzed data from 52 patients (14 newly recruited; 38 from literature). Phenotypes were pre-classified as Leigh syndrome (LS), Leigh-like syndrome (LLS), MELAS/LS overlap syndrome, and MELAS-like syndrome. Neuroimaging data...
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