Description of a Cohort with a New Truncating MYBPC3 Variant for Hypertrophic Cardiomyopathy in Northern Spain
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DOI: 10.3390/genes14040840
Abstract: Background: The pathogenicity of the different genetic variants causing hypertrophic cardiomyopathy (HCM) and the genotype/phenotype correlations are difficult to assess in clinical practice, as most mutations are unique or identified in non-informative families. Pathogenic variants… read more here.
Keywords: hypertrophic cardiomyopathy; mybpc3 variant; truncating mybpc3; age ... See more keywords