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Abstract: Objective To investigate the significance on the expression of dystrophin in muscle tissue of the patients with myodystrophy.

摘 要: 目的 探讨症患者组织中表达的意义。

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Osmosis-肌

Without the support of dystrophin in place, the sarcolemma essentially wilts and becomes unstable.

没有抗肌萎缩蛋白支撑,肌膜塌缩变得不稳定。

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Osmosis-肌

Okay, so as a quick recap: the protein dystrophin is super important for stabilizing the muscle cell membrane.

抗肌萎缩蛋白对肌纤维稳定性维持极其重要。

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Osmosis-肌

Alright, so the dystrophin gene is a huge gene on the X-chromosome, that has 79 exons and is over 2 million base pairs in length.

抗肌萎缩蛋白是X染色体上一个庞大,含有79个外显子,全长超过2000kbp(书上通常缩写为bp,碱对)。

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Osmosis-肌

Now, the fact that both Duchenne and Becker muscular dystrophy result from mutations in the same dystrophin gene means that they are " allelic disorders, "

DMD和BMD都是由于同一抗肌萎缩蛋白突变引起,意者是“等位疾病”。

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Osmosis-肌

Within that group, dystrophinopathies are the most common, which includes Duchenne muscular dystrophy, or DMD, and Becker muscular dystrophy, both of which result from mutations in the dystrophin gene.

这些功能紊乱中,营养不良疾病是最常见,包括Duchenne型肌营养不良(DMD)和Becker型肌营养不良(BMD);这者都是由抗肌萎缩蛋白突变导致

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Osmosis-肌

In addition to those two, genetic mutations in other genes are responsible for several dozen other muscular dystrophies, some of which code for proteins that form a protein complex with dystrophin protein.

除了这两种疾病,其它突变导致了其它几十种肌营养不良,其中一些编码形成抗肌萎缩蛋白相关蛋白复合体蛋白质。

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Osmosis-肌

Now if this inactivation's random, you'd expect about half of the female's cells to have a functional dystrophin gene and the other half to have a defective dystrophin gene, and these people are typically asymptomatic.

如果失活是随机,可以预料到女性一半细胞中抗肌萎缩蛋白是正常,另一半是有缺陷,通常这些人无临床症状。

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Osmosis-肌

Having said that, if more cells end up with the defective dystrophin gene, and less with the functional one, they can end up being " manifesting carriers, " meaning that they manifest or show some symptoms.

话虽如此,如果机体中有该缺陷细胞更多,而正常更少,这一类人群就是“显性携带者”,意他们也会有部分症状表现。

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Osmosis-肌

Later symptoms include needing a wheelchair because of severe weakness, developing respiratory failure because of a weak diaphragm, scoliosis, and developing dilated cardiomyopathy and arrhythmias since the dystrophin protein is also expressed in heart muscle.

后期症状包括,由于严重肌无力需坐轮椅,由于膈肌无力会发生呼吸衰竭、脊柱侧凸,为抗肌萎缩蛋白也表达于心肌纤维,还会引发扩张型心肌病和心律失常。

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