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Article

Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome.

Pediatric neurology - 1 Jan 2023

Na Ji-Hoon, Lee Young-Mock

Abstract excerpt

BACKGROUND: Mitochondrial DNA (mtDNA)-associated Leigh syndrome is influenced by mutant pathogenicity and corresponding heteroplasmic loads; however, the manner in which heteroplasmic mutant load affects patient phenotypes and the relationship between mutant types and heteroplasmic mutant loads remain unknown. We aimed to investigate the distribution of the mutant load of different mtDNA mutations in a...

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PMID: 36335839
DOI: 10.1016/j.pediatrneurol.2022.09.006

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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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