Souilem Sihem, Kefi Mounir, Mancuso Michelangelo, Nesti Claudia, Hentati Faycal, Amouri Rim
Department of Molecular Neurobiology and Neuropathology La Rabta, National Institute of Neurology, Tunis, Tunisia.
Diagn Mol Pathol. 2010 Mar;19(1):28-32. doi: 10.1097/PDM.0b013e3181b00f02.
We report a novel heteroplasmic mitochondrial DNA mutation in the tRNA gene at nucleotide 7458 (m.7458G>A) in a 26-year-old patient affected with sporadic progressive external ophthalmoplegia associated with dysphagia. Muscle biopsy showed a strong succinate dehydrogenase staining, ragged red fibers, and 15% of cytochrome c oxidase-negative fibers. Activities of mitochondrial respiratory chain complexes I+III and IV were reduced. The mutation was heteroplasmic (75%) in the muscle, but undetectable in accessible tissues from the patient and his maternal relatives. This report expands the molecular heterogeneity of progressive external ophthalmoplegia.
我们报告了一名26岁患有散发性进行性眼外肌麻痹伴吞咽困难患者的tRNA基因中第7458位核苷酸（m.7458G>A）处一种新的异质性线粒体DNA突变。肌肉活检。肌肉活检显示琥珀酸脱氢酶染色强、破碎红纤维以及15%的细胞色素c氧化酶阴性纤维。线粒体呼吸链复合体I+III和IV的活性降低。该突变在肌肉中为异质性（75%），但在患者及其母系亲属的可获取组织中未检测到。本报告扩展了进行性眼外肌麻痹的分子异质性。
