摘要 ：MYBPC3基因突变是家族性肥厚型心肌病的原因之一。
Abstract : The MYBPC3 gene mutations can cause hypertrophic cardiomyopathy (HCM).
目的研究中国人家族性肥厚型心肌病(HCM)的致病基因突变位点，分析基因型与临床表型的相互关系。
Objective to study the disease-causing gene mutations in Chinese hypertrophic cardiomyopathy (HCM) and to reveal the relationship between the genotype and the phenotype.
已发现至少有13种基因的突变可导致家族性肥厚型心肌病，加深对其分子遗传学的认识有利于促进该病的诊断和治疗。
At least 13 genes mutation has now been identified to cause FHCM. Understanding the molecular genetics mechanisms will provide new avenues for diagnosis and treatment for FHCM.
家族性肥厚型心肌病是一种以常染色体显性遗传为特征的具有遗传异质性的心脏疾病，它是年轻人心源性猝死的首要病因。
Familial hypertrophic cardiomyopathy (FHCM) is a genetically heterogeneous cardiac disease transmitted as an autosomal dominant trait. It is the leading cause of sudden cardiac death (SCD) in youth.
家族性肥厚型心肌病是一种以常染色体显性遗传为特征的具有遗传异质性的心脏疾病，它是年轻人心源性猝死的首要病因。
Familial hypertrophic cardiomyopathy (FHCM) is a genetically heterogeneous cardiac disease transmitted as an autosomal dominant trait. It is the leading cause of sudden cardiac death (SCD) in youth.
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