结果:在1例家族性HCM(FHCM)患者中发现MYH-7基因第20号外显子的723密码子位置发生C→G颠换,使精氨酸(Arg)变为甘氨酸(Gly),正常对照组在同一位置均未见异常...
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运动性猝死是指与运动有关的突然死亡 ( Exerci se - related suddend eath) , 其中家族性肥大性心肌病 ( FHCM) 是青年人猝死的主要原因, 也是运动中猝死的常见原因, 加之先天性心血管畸形, 其占运动员突然死亡的50 %。
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家族性肥厚型心肌病 familial hypertrophic cardiomyopathy; fhcm 肥厚性梗阻型心肌病 hypertrophic obstructive cardiomyopathy ..
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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.
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。
The male patients of FHCM were in multitude (88 89%, 16/18), the family members disease symptoms were severe or light, and the pathologic degrees of the disease were disparity in a family.
家族遗传方面本病以男性患者居多(88.89% ,16 / 18) ,家族成员症状有轻有重、病变程度不一。
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。
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