线粒体tRNA^(Leu(UUR))基因A3302G突变所致线粒体脑肌病的临床和分子学特征  

Clinical and molecular features of encepha-lomyopathy due to the A3302G mutation in the mitochondrial tRNA^(Leu(UUR)) gene

作　　者：Hutchison W.M Thyagarajan D Poulton J H.-H.M. Dahl 王孝文 

机构地区：[1]Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Vic. 3052, Australia,Dr.

出　　处：《世界核心医学期刊文摘（神经病学分册）》2006年第5期22-23,共2页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：Background: The mitochondrial DNA mutation A3302G in the tRNA Leu(UUR) gene causes respiratory chain complex I deficiency. The main clinical feature appears to be a progressive mitochondrial myopathy with proximal muscle weakness. Objective: To report on clinical and molecular features in 4 novel patients with the A3302G mutation. Design: Case reports. Patients: Four patients (3 of whom are from the same family) with a myopathy caused by the A3302G mitochondrial DNA mutation. Main Outcome Measure: Identification of the A3302G mutation by DNA sequencing. Results: All 4 patients had an adult-onset progressive mitochondrial myopathy with proximal muscle weakness, resulting in exercise intolerance. In 2 unrelated patients, upper limb reflexes were absent with preservation of at least some lower limb reflexes. Other features including hearing loss, recurrent headaches, ptosis, progressive external ophthalmoplegia, and depression were present. Conclusion: While the dominant clinical features of the A3302G mutation were exercise intolerance and proximal muscle weakness, other features of mitochondrial encephalomyopathies, previously not described for this mutation, were present.Background： The mitochondrial DNA mutation A3302G in the tRNA^L eu（UUR） gene causes respiratory chain complex I deficiency. The main clinical feature appears to be a progressive mitochondrial myopathy with proximal muscle weakness. Objective： To report on clinical and molecular features in 4 novel patients with the A3302G mutation. Design： Case reports. Patients： Four patients （3 of whom are from the same family） with a myopathy caused by the A3302G mitochondrial DNA mutation. Main Outcome Measure： Identification of the A3302G mutation by DNA sequencing. Results： All 4 patients had an adult-onset progressive mitochondrial myopathy with proximal muscle weakness, resulting in exercise intolerance In 2 unrelated patients, upper limb reflexes were absent with preservation of at least some lower limb reflexes. Other features including hearing loss, recurrent headaches, ptosis, progressive external ophthalmoplegia, and depression were present, Conclusion： While the dominant clinical features of the A3302G mutation were exercise intolerance and proximal muscle weakness, other features of mitochondrial encephalomyopathies, previously not described for this mutation, were present.

关 键 词：线粒体tRNA^Leu(UUR)基因 线粒体脑肌病 临床特征 分子学特征 G突变 线粒体DNA 近端肌无力 线粒体肌病 DNA测序 复发性头痛 

分 类 号：R587.102[医药卫生—内分泌] R746[医药卫生—内科学]