Analysis of cardiac troponin C gene TNNC1 c. G175C mutation in a Chinese pedigree with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype

Objective To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy(HCM)focusing on the cardiac troponic C gene TNNC1 c.G175C mutation.Methods All family members of a Chinese pedigree with hypertrophic cardiomyopathy admitted in Third People’s Hospital of Qingdao