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Article

Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease.

Pediatric neurology - 1 Jul 2022

Wu Tenghui, He Fang, Xiao Neng, Han Yunli, Yang Liming, Peng Jing

Abstract excerpt

OBJECTIVES: Over the past decades, mitochondrial disease classification has been mainly based on molecular defects. We aim to analyze phenotype-genotype correlation of mitochondrial disorders according to molecular classification. METHODS: In this cohort study, we identified 135 individuals diagnosed with mitochondrial disorders, and all patients were divided into four subgroups based on molecular functions: the...

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PMID: 35598585
DOI: 10.1016/j.pediatrneurol.2022.04.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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