Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
Intern Med J. 2011 Feb;41(2):199-202. doi: 10.1111/j.1445-5994.2010.02379.x.
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a clinical syndrome associated with mitochondrial abnormalities. In approximately 80% of patients, the syndrome is associated with the A3243G mutation. However, it has been realized that the A3243G mutation is not uncommon in the general population and is found in many patients with clinical presentations other than MELAS. We present four patients who presented with rhabdomyolysis, muscle fatigue, external ophthalmoplegia and myoclonic jerks respectively. These patients were all found to have the A3243G mutation on muscle biopsy. These patients illustrate the variety of presentations associated with A3243G mutation.
线粒体肌病、脑病、乳酸酸中毒和卒中样发作（MELAS）是一种与线粒体异常相关的临床综合征。在大约 80%的患者中，该综合征与 A3243G 突变相关。然而，已经意识到 A3243G 突变在普通人群中并不罕见，并且在许多表现为非 MELAS 的患者中发现。我们介绍了 4 名分别出现横纹肌溶解、肌肉疲劳、外眼肌麻痹和肌阵挛性抽搐的患者。这些患者在肌肉活检中均发现 A3243G 突变。这些患者说明了与 A3243G 突变相关的各种表现。
