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Article

Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders.

Annals of clinical and translational neurology - 1 Mar 2025

Liu Zhimei, Pan Kexin, Wang Mingzhao, Jin Yijun, Yang Wenxin, Chen Keer, Xu Chaolong, Duan Xin, Zou Ying, Ren Changhong, Dai Lifang, Zhao Suzhou, Wang Ya, Shen Lijun, Fang Fang, Fang Hezhi

Abstract excerpt

OBJECTIVE: Pathogenic variations in the mitochondrial genome are tightly linked to neurological mitochondrial disorders in children. However, the mutation spectrum of mitochondrial DNA (mtDNA) in the Chinese population remains incomplete. Therefore, the primary objective of our study was to comprehensively characterize pathogenic mtDNA variants in Chinese children with mitochondrial disorders at clinical,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39913609
DOI: 10.1002/acn3.52315
PMCID: PMC11920736

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