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Article

[Clinical characteristics of children with MT-TK gene m.8344A>G variation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2024

Wang M Z, Jiang H F, Song T Y, Xu C L, Li H, Song M H, Fang F

Abstract excerpt

Objective: To summarize the clinical characteristics of children carrying the m.8344A>G variant of MT-TK gene. Methods: A case series study was conducted to retrospectively collect data of 22 children with mitochondrial disease caused by MT-TK gene m.8344A>G variation who were treated at the Department of Neurology of Beijing Children's Hospital of Capital Medical University from January 2012 to January 2024....

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Identifiers

PMID: 39429077
DOI: 10.3760/cma.j.cn112140-20240516-00337

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