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

没有抗白支撑，膜塌变得不稳定。

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

抗白对纤维稳定性维持极其重要。

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.

抗白基因是X染色体上一个庞大基因，含有79个外显子，全长超过2000kbp（书上通常写为bp，碱基对）。

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都是由于同一抗白基因突变引起，意味着二者是“等位基因疾病”。

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，养不良疾病是最常见，包括Duchenne型养不良（DMD）和Becker型养不良（BMD）；这二者都是由抗白基因突变导致。

Genetic testing ultimately identified a pathogenic dystrophin DMD gene deletion consistent with her being a symptomatic carrier of Duchenne's muscular dystrophy, with skeletal muscle and cardiac involvement.

基因检测最终揭示了一个致病性养不良白基因（DMD）缺失， 这与她作为杜兴氏养不良症症状携带者身份相符，且该病已累及骨骼和心脏。

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，其它基因突变导致了其它几十种养不良，其中一些基因编码形成抗白相关白复合体白质。

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白基因是正常，另一半是有缺陷，通常这些人无临床症状。

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，如果机体中有该基因缺陷细胞更多，而正常基因更少，这一类人群就是“显性携带者”，意味着他们也会有部分症状表现。

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，由于严重无力需坐轮椅，由于膈无力会发生呼吸衰竭、脊柱侧凸，因为抗白也表达于心纤维，还会引发扩张型心病和心律失常。

Mutations in the dystrophin gene that lead to a loss of dystrophin leads to duchenne muscular dystrophy, whereas mutations in the dystrophin gene that leads to misshapen dystrophin leads to Becker muscular dystrophy.

基因突变导致抗白丢失会引发DMD；而突变导致畸形白则会引发BMD。