Paternal inheritance of mitochondrial DNA
Paternal inheritance of mitochondrial DNA
复制标题
DOI：
10.1056/nejmoa020350
复制
发表时间：
2002-08-22
影响因子：
158.5
通讯作者：
Vissing, J
中科院分区：
文献类型：
--
作者：
Schwartz, M;Vissing, J
本报告描述了一名28岁男子终身运动不耐受。评估显示，由于一个新的2-bp的线粒体DNA缺失的ND 2基因，编码的酶复合物I的线粒体呼吸链的亚基线粒体肌病。对患者及其直系亲属的研究表明，异常线粒体DNA来源于父亲，占患者肌肉线粒体DNA的90%。
This report describes a 28-year-old man with lifelong exercise intolerance. Evaluation revealed a mitochondrial myopathy due to a novel 2-bp mitochondrial DNA deletion in theND2gene, which codes for a subunit of enzyme complex I of the mitochondrial respiratory chain. Studies of the patient and his immediate family members revealed that the abnormal mitochondrial DNA was paternal in origin and accounted for 90 percent of the mitochondrial DNA in the patient's muscle.