Mitochondrial cardiomyopathy.
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.
Ozawa
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Department of Biomedical Chemistry, Faculty of Medicine, University of Nagoya, Japan.
D000595:Amino Acid Sequence / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D008929:Mitochondria, Heart / Q000473:pathology; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics
D004272:DNA, Mitochondrial