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Clinical and genetic spectrum of pediatric mitochondrial disorders in China: insights from a 47-case genetically confirmed cohort.

Orphanet journal of rare diseases - 8 Jan 2026

Yang Fan, Yao Ruen, Chang Guoying, Hu Jiayue, Feng Biyun, Wang Libo, Hu Feihan, Huang Yiguo, Wu Shuo, Yu Tingting, Ding Yu, Wang Xiumin

Abstract excerpt

BACKGROUND: Primary mitochondrial disorders (MDs) are genetically and clinically heterogeneous metabolic diseases caused by mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) mutations. Pediatric MDs pose diagnostic challenges due to variable onset, multisystem involvement, and complex genotype–phenotype correlations. METHODS: We retrospectively analyzed 69 children with suspected MDs at Shanghai Children’s Medical...

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Child
Child, Preschool
China
DNA, Mitochondrial
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mitochondrial Diseases

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PMID: 41501912
DOI: 10.1186/s13023-025-04180-7
PMCID: PMC13094090

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

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