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Article

Clinical and Genetic Characteristics of Mitochondrial DNA Depletion Syndrome Associated with SUCLG1 Variants in China.

Physiological research - 12 May 2026

Zhang G-X, Ji K-J, Wang Z-W, Wang N-N

Abstract excerpt

This study aimed to summarize the genetic variants and clinical characteristics of mitochondrial DNA depletion syndrome (MDS) associated with SUCLG1 mutations in children from China. A systematic review of cases reported in a Chinese literature database was conducted. Clinical data and genetic findings of children with MDS caused by SUCLG1 mutations were analyzed. A total of 13 cases from 9 articles were...

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Identifiers

PMID: 42187506
PMCID: PMC13225449

Genes

SUCLG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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