Key result
MYH7 mutation R723G enhances mRNA stability, potentially driving unequal allelic ratios in HCM.
Why the study?
It is unknown which mechanisms cause unequal allelic ratios in hypertrophic cardiomyopathy patients with missense mutations.
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May prompt mechanistic studies of allelic imbalance in HCM; leaves open clinical relevance for R723G carriers.
Kowalski et al. (2026) studied Hypertrophic cardiomyopathy. R723G mutation in MYH7 was evaluated on mRNA stability. The hypertrophic cardiomyopathy mutation R723G in MYH7 enhances its mRNA stability, providing a potential mechanism for unequal allelic ratios in patients with missense mutations.
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