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A Case of Diabetic Amyotrophy Associated with 3243 Mitochondria) tRNA(leu; UUR) Mutation and Successful Therapy with Coenzyme Q10

机译:糖尿病肌萎缩症伴3243线粒体tRNA(leu; UUR)突变并辅酶Q10成功治疗

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References(14) Cited-By(16) We report the case of 71-year-old male who was once diagnosed as having diabetic amyotrophy, because of pronounced wasting in proximal muscles, massive weight loss, and development of paresthesia in his legs. Afterwards, ragged red fibers and mitochondrial tRNA mutation at position 3243 were documented in muscle biopsy. He had diabetes mellitus associated with 3243 mitochondrial DNA mutation, suggesting that clinically, diabetic amyotrophy may be overlapped with mitochondria-related disease entities in some parts. Coenzyme Q10 administration was effective in relieving the symptoms in his legs, fatigue, and residual urine in his bladder. These were confirmed with the improvement in neurological parameters.In conclusion, this case gives important help in understanding myopathy in diabetes. It would be important to check on the 3243 mitochondrial tRNA mutation in patients with diabetic amyotrophy and/or diabetic neuropathic symptoms.
机译:参考文献(14)被引用者(16)我们报道了一个71岁的男性病例,该男性曾经被诊断出患有糖尿病性肌萎缩症,原因是近端肌肉明显消瘦,体重大量减轻以及双腿感觉异常。之后,在肌肉活检中记录了参差不齐的红色纤维和3243位点的线粒体tRNA突变。他患有与3243线粒体DNA突变相关的糖尿病,这表明在临床上,糖尿病性肌萎缩症在某些部位可能与线粒体相关的疾病实体重叠。服用辅酶Q10可有效缓解腿部症状,疲劳和膀胱残余尿。这些都得到了神经学参数的改善的证实。总之,本病例对了解糖尿病的肌病有重要帮助。在患有糖尿病性肌萎缩和/或糖尿病性神经病症状的患者中,检查3243线粒体tRNA突变非常重要。

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