一名患有肌病的患者线粒体DNA细胞色素b基因中的错义突变。
Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.
作者信息
Andreu A L, Bruno C, Shanske S, Shtilbans A, Hirano M, Krishna S, Hayward L, Systrom D S, Brown R H, DiMauro S
机构信息
H. Houston Merritt Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia College of Physicians and Surgeons, New York, NY 10032, USA.
出版信息
Neurology. 1998 Nov;51(5):1444-7. doi: 10.1212/wnl.51.5.1444.
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.
一名患有进行性运动不耐受、近端肌无力且骨骼肌中存在复合物III缺乏的患者，其线粒体DNA细胞色素b基因发生错义突变（G15762A）。该突变导致一个高度保守氨基酸的替换（G339E），在患者肌肉中呈异质性（85%），且在100名不同种族背景的个体中未出现。这些数据有力地表明，这种分子缺陷是肌病的主要病因。
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