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Article

The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models.

International journal of molecular sciences - 30 Aug 2023

Ryytty Sanna, Hämäläinen Riikka H

Abstract excerpt

The m.3243A>G mutation in the tRNA Leu(UUR) gene (MT-TL1) is one of the most common pathogenic point mutations in human mtDNA. Patient symptoms vary widely and the severity of the disease ranges from asymptomatic to lethal. The reason for the high heterogeneity of m.3243A>G-associated disease is still unknown, and the treatment options are limited, with only supportive interventions available. Furthermore, the...

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Identifiers

PMID: 37686280
DOI: 10.3390/ijms241713478
PMCID: PMC10487608

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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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