Open access
Jan 2026
Mitochondrial tRNASer(AGY) 12234A > G Mutation May Contribute to the Clinical Expression of Hypertrophic Cardiomyopathy‐Associated tRNAIle 4263A > G Mutation
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‐tRNAI...
Mengting Liu, Qinxian Guo, Shunrong Zhang et al.
· Human Mutation · 0 citations