期刊
MOLECULAR GENETICS AND METABOLISM
卷 70, 期 3, 页码 235-237出版社
ACADEMIC PRESS INC
DOI: 10.1006/mgme.2000.3002
关键词
mitochondrial A3243G mutation; cardiomyopathy; hearing loss; tissue distribution
Phenotypes of individuals with the mitochondrial A3243G mutation and amount of mutant DNA in different tissues can be very variable, but the proportion of mutant DNA was consistantly lower in blood than muscle in previously studied patients. We detected the A3243G mutation in a 54-year-old patient with cardiomyopathy and hearing loss, where the amount of mutant DNA was higher in blood (19%) than in muscle (16%). This shows that the level of A3243G mutation is not always lower in rapidly dividing tissues such as blood than in muscle, as has been presumed until now. (C) 2000 Academic Press.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据