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The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross-sectional study.

Clinical genetics - 1 Dec 2024

Zhao Yang, Zhao Xutong, Ji Kunqian, Wang Junling, Zhao Yuying, Lin Jie, Gang Qiang, Yu Meng, Yuan Yun, Jiang Haishan, Sun Chong, Fang Fang, Yan Chuanzhu, Wang Zhaoxia

Abstract excerpt

Mitochondrial diseases (MtDs) present diverse clinical phenotypes, yet large-scale studies are hindered by their rarity. This retrospective, multicenter study, conducted across five Chinese hospitals' neurology departments from 2009 to 2019, aimed to address this gap. Nationwide, 1351 patients were enrolled, with a median onset age of 14.0 (18.5) years. The predominant phenotype was mitochondrial...

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China
Cross-Sectional Studies
DNA, Mitochondrial
DNA Polymerase gamma
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mitochondrial Diseases

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PMID: 39118480
DOI: 10.1111/cge.14605

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POLG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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