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Cardiomyopathies and mitochondrial DNA mutations.

作者信息

Takeda N

机构信息

Department of Internal Medicine, Aoto Hospital, Jikei University School of Medicine, Tokyo, Japan.

出版信息

Mol Cell Biochem. 1997 Nov;176(1-2):287-90.

PMID:9406174
Abstract

Our former studies concerning mitochondrial DNA mutations were reviewed in this article. A 7.4 kb deletion between the D-loop and ATPase 6 genes was detected in myocardial tissue obtained at autopsy from patients with myocardial infarction, diabetes mellitus and also patients treated with adriamycin. A case with diabetes mellitus and hypertrophic cardiomyopathy is demonstrated which revealed a point mutation from adenine to guanine at position 3243 within tRNA Leu(UUR).

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