Article
Gender- and age-related differences in distinct phenotypes of hypertrophic cardiomyopathy-associated mutation MYBPC3-E334K.
Heart and vessels - 1 Oct 2021
Yang Qian-Li, Zuo Lei, Ma Zhi-Ling, Lei Chang-Hui, Zhu Xiao-Li, Wang Xuan-Ying, Wang Bo, Zhao Xue-Li, Zhang Juan, Wang Yue, Zhang Yan-Min, Liu Li-Wen
Abstract excerpt
The mutation MYBPC3-E334K is a culprit mutation of hypertrophic cardiomyopathy (HCM). The pathogenicity of MYBPC3-E334K is conflicting in ClinVar because of the limited segregation data and the relatively high frequency in gnomAD (0.03% overall, with 0.3% in East Asians and 0.8% in Japanese). The main aim is to clarify the clinical importance and phenotype-genotype correlations in subjects with or without...
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