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首页> 外文期刊>Journal of neurology >Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G.
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Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G.

机译：线粒体DNA突变3243A> G的患者的肌肉计算机断层扫描模式。

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摘要

Computed tomography provides a sensitive method for investigating skeletal muscle changes in neuromuscular diseases, but this method has not been applied to mitochondrial myopathies. We characterized the pattern of muscle involvement in patients with the 3243A>G mutation in mitochondrial DNA (mtDNA), the common MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) mutation. Twenty-four patients, age 19-73 years, with 3243A>G were examined. Clinical evaluation included assessment of muscle strength and functional capacity. All the patients underwent muscle computed tomography, and muscle samples from 17 of them were examined for the presence of ragged red fibres and for the 3243A>G heteroplasmy. Venous blood lactate at rest and serum creatine kinase were determined. Clinical myopathy was found in six patients, while nine showed mild muscle weakness and nine had normal muscle function. The upper and lower limbs were equally affected, but the proximal muscles were more severely affected than the distal ones. CT revealed abnormalities in the muscles of 13 patients (54%; 95% confidence interval, 33-76%), including the six with clinical myopathy and seven without clinical myopathy. Myopathic changes were found most frequently in the pelvic muscles, with predominant involvement of the gluteus maximus. These data show that CT reveals frequent abnormal findings in the muscle of patients with the 3243A>G mtDNA mutation.Muscle CT is a useful adjunct to clinical evaluation in these patients.
机译：计算机体层摄影术为研究神经肌肉疾病中骨骼肌的变化提供了一种灵敏的方法，但该方法尚未应用于线粒体肌病。我们表征了线粒体DNA（mtDNA）中具有3243A> G突变，常见的MELAS（线粒体肌病，脑病，乳酸性酸中毒和中风样发作）突变的患者的肌肉受累模式。检查了24名年龄在19-73岁的患者，其3243A> G。临床评估包括评估肌肉力量和功能能力。所有患者均进行了肌肉计算机断层扫描，并检查了其中17例患者的肌肉样品中是否存在参差不齐的红色纤维以及3243A> G异质性。测定静止时的静脉血乳酸和血清肌酸激酶。在六名患者中发现了临床肌病，而九名患者表现出轻度的肌肉无力，九名患者的肌肉功能正常。上肢和下肢受到的影响相同，但近端肌肉的受累程度要远于远端肌肉。 CT显示13例患者的肌肉异常（54％; 95％置信区间为33-76％），包括6例有临床肌病的患者和7例无临床肌病的患者。骨盆肌最常见于肌病性改变，主要累及臀大肌。这些数据表明CT揭示了3243A> G mtDNA突变患者的肌肉中频繁出现异常发现。肌肉CT是这些患者临床评估的有用辅助手段。

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