Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy
Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy
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DOI：
10.1212/wnl.51.5.1444
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发表时间：
1998-11-01
期刊：
影响因子：
9.9
通讯作者：
DiMauro, S
中科院分区：
文献类型：
--
作者：
Andreu, AL;Bruno, C;DiMauro, S
1例进行性运动不耐受、近端无力和骨骼肌复合物III缺乏症患者的线粒体DNA细胞色素B基因发生错义突变（G15762 A）。导致高度保守氨基酸（G339E）取代的突变在患者的肌肉中是异质性的（85%），并且不存在于100个不同种族背景的个体中。这些数据有力地表明，这种分子缺陷是肌病的主要原因。
A patient with progressive exercise intolerance, proximal weakness, and complex III deficiency in skeletal muscle had a missense mutation in the cytochrome b gene of mitochondrial DNA (G15762A). The mutation, which leads to the substitution of a highly conserved amino acid (G339E), was heteroplasmic (85%) in the patient's muscle and was not present in 100 individuals of different ethnic backgrounds. These data strongly suggest that this molecular defect is the primary cause of the myopathy.