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母系遗传的心肌病：一种与线粒体DNA A3243G突变（MELAS突变）相关的新表型。

Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation).

作者信息

Silvestri G, Bertini E, Servidei S, Rana M, Zachara E, Ricci E, Tonali P

机构信息

Institute of Neurology, Catholic University, Rome, Italy.

出版信息

Muscle Nerve. 1997 Feb;20(2):221-5. doi: 10.1002/(sici)1097-4598(199702)20:2<221::aid-mus13>3.0.co;2-5.

DOI:10.1002/(sici)1097-4598(199702)20:2<221::aid-mus13>3.0.co;2-5
PMID:9040662
Abstract

The A to G transition at nt.3243 of the tRNALeu(UUR) gene of mtDNA, commonly associated with MELAS, was detected in several members of a family affected by a maternally inherited form of hypertrophic cardiomyopathy. These findings suggest adding cardiomyopathy in the list of phenotypes associated with the 3243 mutation.

摘要

在线粒体DNA的tRNALeu(UUR)基因第3243位核苷酸处的A到G转换，通常与线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）相关，在一个受母系遗传的肥厚型心肌病影响的家族的几名成员中被检测到。这些发现表明应将心肌病添加到与3243突变相关的表型列表中。

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Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation).母系遗传的心肌病：一种与线粒体DNA A3243G突变（MELAS突变）相关的新表型。
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