A Novel TPM1 Mutation Causes Familial Hypertrophic Cardiomyopathy in an Indian Family: Genetic and Clinical Correlation

We present a case of a novel heterozygousTPM1 mutation, NM_001018005.2:c.203A>G, p.Gln68Arg; co-segregating in an Indian family with hypertrophic cardiomyopathy. Our report expands the mutational spectrum of HCM due toTPM1 and provides the correlated cardiac phenotype.
Source: Indian Journal of Clinical Biochemistry - Category: Biochemistry Source Type: research