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

We present a case of a novel heterozygous TPM1 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 to TPM1 and provides the correlated cardiac phenotype.PMID:38223010 | PMC:PMC10784234 | DOI:10.1007/s12291-022-01036-w

Source: Clinical Biochemistry - January 15, 2024 Category: Biochemistry Authors: Prabodh Kumar Ganesh Paramasivam Tom Devasia Mukund Prabhu Maneesh K Rai K Prakashini Sandeep Mallya Dinesh Reghunathan A Megha Krishnananda Nayak Rajasekhar Moka Source Type: research