Article
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Annals of neurology - 1 Apr 2022
Stenton Sarah L, Zou Ying, Cheng Hua, Liu Zhimei, Wang Junling, Shen Danmin, Jin Hong, Ding Changhong, Tang Xiaolu, Sun Suzhen, Han Hong, Ma Yanli, Zhang Weihua, Jin Ruifeng, Wang Hua, Sun Dan, Lv Jun Lan, Prokisch Holger, Fang Fang
Abstract excerpt
OBJECTIVE: Leigh syndrome (LS) is a heterogeneous neurodegenerative disease and the most frequent pediatric manifestation of mitochondrial disease. In the largest patient collection to date, this study aimed to provide new insights into the clinical and genetic spectrum of LS, defect-specific associations, and predictors of disease course and survival. METHODS: Clinical, metabolic, neuroimaging, onset, and...
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