Key result
A novel mutation in the MYBPC3 gene causes familial hypertrophic cardiomyopathy, demonstrating that the number of mutations does not always correlate with disease severity.
Reports a novel MYBPC3 mutation causing familial hypertrophic cardiomyopathy and highlights that mutation quantity does not strictly dictate disease severity.
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Expands MYBPC3 variants linked to familial HCM; leaves open whether mutation number predicts severity.
We think that the main interests of this study are the report of a new mutation in gene MYBPC3 as a cause of Hypertrophic cardiomyopathy (HMC), and the verification of the fact that not always is the number of mutations related to the severity of the disease.
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Clemente et al. (2017) studied this question. A novel mutation in the MYBPC3 gene causes familial hypertrophic cardiomyopathy, demonstrating that the number of mutations does not always correlate with disease severity.
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