线粒体心肌病
Mitochondrial cardiomyopathy.
作者信息
Ozawa T
机构信息
Department of Biomedical Chemistry, Faculty of Medicine, University of Nagoya, Japan.
出版信息
Herz. 1994 Apr;19(2):105-18, 125.
Accumulating evidence emphasizes the role of genetic factors in the development of cardiomyopathy. Mitochondrial cardiomyopathy is defined as cardiomyopathy caused by mitochondrial DNA mutations. The rate of mitochondrial DNA mutation is estimated to be much higher than that of nuclear DNA. It has been demonstrated that mutations of mitochondrial DNA are found in a variety of diseases, suggesting a new concept of mitochondrial disease. This contribution reviews the concept, molecular genetics, family history, pathology, clinical symptoms, diagnosis and therapy of mitochondrial cardiomyopathy.
越来越多的证据强调了遗传因素在心肌病发展中的作用。线粒体心肌病被定义为由线粒体DNA突变引起的心肌病。据估计，线粒体DNA的突变率远高于核DNA。已经证明，线粒体DNA突变存在于多种疾病中，这提示了线粒体疾病的新概念。本文献综述了线粒体心肌病的概念、分子遗传学、家族史、病理学、临床症状、诊断和治疗。
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