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Article

Genotype-Phenotype Correlations in Chinese Pediatric Patients With Single Large-Scale Mitochondrial DNA Deletion Disorders.

Clinical genetics - 1 Apr 2026

Wang Jun, Song Minhan, Liu Zhimei, Xu Chaolong, Zou Ying, Duan Xin, Liu Yang, Zhang Weihua, Li Jiuwei, Fang Fang

Abstract excerpt

This study investigated clinical and genetic characteristics of Chinese pediatric patients with single large-scale mitochondrial DNA deletions (SLSMD). We analyzed 28 patients (July 2004-March 2025) using long-range PCR and next-generation sequencing. Spearman correlation and ANOVA assessed genotype-phenotype relationships. Patients (mean age 5.52 ± 3.96 years) exhibited multi-organ involvement (5.43 ± 1.87...

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Identifiers

PMID: 41074779
DOI: 10.1111/cge.70089

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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