Similar symptoms observed in Myasthenia gravis (MG) can be also detected in the case of skeletal muscle AMP-deaminase deficiency. We compared the activity and expression of AMP-deaminase (AMPD) products in skeletal muscles of MG patients and MG-free individuals. The activity of AMP-deaminase in the muscles of MG patients was significantly higher than in the controls and was 2.05 µmol/min/mg protein (±0.31). The two groups differ in level of AMPD product expression. Furthermore in MG-group molecular size of isoform AMPD1 is 90 kDa in contrast to MG-free group where is present 70 kDa isoform of enzyme. The data suggests that the disturbances in transmission of neuronal signaling, taking place in the skeletal muscles of MG patients, may also change energetic metabolism of the affected muscles by changing molecular mass of isoform.

中文翻译：

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肌肉重症肌无力患者中AMP脱氨酶的同工酶。

在骨骼肌AMP脱氨酶缺乏症的情况下，也可以检测到在重症肌无力（MG）中观察到的类似症状。我们比较的活性和表达AMP -脱氨酶（AMPD）MG患者和无MG个人的骨骼肌中的产品。MG患者肌肉中AMP脱氨酶的活性显着高于对照组，为2.05 µmol / min / mg蛋白（±0.31）。两组的AMPD产物表达水平不同。此外，在MG-基团中，同工型AMPD1的分子大小为90 kDa，而在无MG的基团中，存在70 kDa的酶同工型。数据表明，在MG患者的骨骼肌中发生的神经元信号传递障碍也可能通过改变同工型的分子质量而改变了受影响肌肉的能量代谢。