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Mitochondrial tRNASer(AGY) 12234A > G Mutation May Contribute to the Clinical Expression of Hypertrophic Cardiomyopathy-Associated tRNAIle 4263A > G Mutation.

Human mutation - 1 Jan 2026

Liu Mengting, Guo Qinxian, Zhang Shunrong, Yu Daojun, Ding Yu

Abstract excerpt

Mutations in mitochondrial tRNA (mt-tRNA) are found to be associated with hypertrophic cardiomyopathy (HCM), but their molecular mechanisms remain largely undetermined. In this study, we investigated the contribution of a novel HCM-related mt-tRNASer(AGY) 12234A > G mutation to the phenotypic expression of the mt-tRNAIle 4263A > G mutation in two genetically unrelated Han Chinese pedigrees. Strikingly, the...

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Identifiers

PMID: 42597582
DOI: 10.1155/humu/6788682
PMCID: PMC13469749

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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