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Article

[Leigh syndrome caused by the mitochondrial m.8993T>G mutation with hypocitrullinemia: a report of four cases and literature review].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jan 2000

Li Ying-Xue, Wang Dong-Juan, Zhou Mao-Bin, Sun Hao-Xuan, Hong Si-Qi, Jiang Li, Guo Yi

Abstract excerpt

OBJECTIVES: To explore early diagnostic biological markers for Leigh syndrome caused by the m.8993T>G mutation. METHODS: A retrospective analysis was performed on the clinical data of four children diagnosed with m.8993T>G mutation-related mitochondrial disease at the Children's Hospital of Chongqing Medical University from January 2014 to January 2024. Additionally, a literature review was conducted. RESULTS:...

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Identifiers

PMID: 39267509
DOI: 10.7499/j.issn.1008-8830.2404036
PMCID: PMC11404460

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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