室致密化不全
拉明
医学
心肌病
突变
扩张型心肌病
基因突变
心脏病学
遗传学
内科学
表型
基因
心力衰竭
生物
作者
John Jerry Parent,Jeffrey Allen Towbin,John L. Jefferies
标识
DOI:10.14503/thij-13-3843
摘要
Left ventricular noncompaction is a rare type of cardiomyopathy, the genetics of which are poorly understood to date. Lamin A/C gene mutations have been associated with dilated cardiomyopathy and diseases of the conduction system, but rarely in left ventricular noncompaction cardiomyopathy. This report describes the cases of 4 family members with a lamin A/C gene mutation, 3 of whom had phenotypic expression of left ventricular noncompaction.
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