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Objective:To find out the development of facioscapulohumeral muscular dystrophy in a large kindred over the past 20 years.

目的了解面肩肱型肌营症例的发展形势,寻求防治方法。

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TED 2019年度大会(双语)

And then you would be one of hundreds of millions of people with a genetic disease, such as sickle cell anemia or progeria or muscular dystrophy or Tay-Sachs disease.

然后你将成为数亿遗传性疾病患者员,比如镰状细胞性贫血、祖细胞性贫血、肌肉萎缩泰—萨克斯病。

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VOA常速英语_美洲

This house is decorated in honor of my Michael eighteen who has muscular dystrophy.

这座房子是为了纪念我患有肌肉营养不良18岁迈克尔而装修。

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VOA Special 2023年5月合

The genetic defects can cause muscular dystrophy, epilepsy, heart problems and intellectual disabilities.

基因缺陷可能会导致肌肉萎缩、癫痫、心脏问题和智力障碍。

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连线杂志

Once it makes that cut, we can provide a template to precisely repair the DNA and correct a mutation for muscular dystrophy, sickle cell anemia, or any of the other thousands of inborn genetic diseases.

旦它完成了切割,我们就可以提供个模板来精确修复基因,纠正肌肉萎缩症、镰状细胞贫血任何其他数千种先天性遗传疾病突变。

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BBC Ideas 精选(双语)

This means genetic diseases such as haemophilia, muscular dystrophy and cancers, in principle, might be " corrected" by editing the DNA of human embryos.

这意味着血友病、肌肉萎缩症和癌症等遗传疾病原则上可以通过编辑人类胚胎 DNA 得到“纠正”。

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健身知识科普

These benefits include but are not limited to, obviously improved exercise performance, improve injury prevention and rehabilitation, improved post-exercise recovery, improved anti-aging, and even improved protection to diseases like Parkinson's and muscular dystrophy.

这些好处包括但不限于运动成绩明显提高,预防伤害和提升康复能力,有助于运动后恢复,还有抗衰老能力,甚至能预防帕金森症和肌肉萎缩症。

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BBC 听力 2016年9月合

The man, Rufino Borrego, told Portuguese media that a neurologist has found after more than four decades that he suffered from a different disease myasthenia, which unlike the initial diagnosis of muscular dystrophy, is curable.

戈(Rufino Borrego)告诉葡萄牙媒体,位神经病学家40多年后才发现他患是另外种名叫肌无力疾病,而不是最初诊断肌肉萎缩症,是可以治愈。

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Osmosis-肌骨

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,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);这二者都是由抗肌萎缩蛋白基因突变导致。

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商界名人传奇故事

His muscular dystrophy had been degenerating his body for years, and he died on June 30, 1956, at the age of 24.

他肌肉萎缩症已经使他身体退化多年,他于 1956 年 6 月 30 日去世,年仅 24 岁。

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经济学人(汇总)

Editing the unhealthy cells of those suffering from genetic diseases such as Duchenne's muscular dystrophy and cystic fibrosis will alleviate their suffering.

编辑那些患有杜氏肌营养不良和囊性纤维化等遗传疾病人不健康细胞将减轻患者痛苦。

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商界名人传奇故事

The little boy was born with a congenital disease, muscular dystrophy, which leads to a progressive weakening of the muscles and severe disability.

这个小男孩出生时患有先天性疾病,肌肉萎缩症,导致肌肉逐渐变弱和严重残疾。

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VOA常速英语_美洲

He says this house belongs to a neighbor who has helped him raise over 2 million dollars for muscular dystrophy research.

他说,这所房子属于位邻居,这位邻居帮助他筹了200多万美元用于肌肉营养不良症研究。

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Osmosis-肌骨

Since this is linked to the X chromosome, both Duchenne and Becker muscular dystrophy are called X-linked recessive.

由于发病与X染色体有关联,DMD和BMD被称为X连锁隐性遗传。

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VOA常速英语_美洲

He has duchenne muscular dystrophy which is ultimately a fatal disease.

他患有杜氏肌营养不良症,这最终是种致命疾病。

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Osmosis-肌骨

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都是由于同抗肌萎缩蛋白基因突变引起,意味着二者是“等位基因疾病”。

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Osmosis-肌骨

Muscular dystrophy is actually a group of disorders, all of which are caused by genetic mutations.

肌营养不良是系列由于基因突变功能紊乱。

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Osmosis-肌骨

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.

基因突变导致抗肌萎缩蛋白丢失会引发DMD;而突变导致畸形蛋白则会引发BMD。

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Osmosis-肌骨

These other muscular dystrophies, therefore end up causing a lot of the same symptoms as the dystrophinopathies.

这些肌营养不良症都是营养不良疾病,因此有许多相同症状。

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Osmosis-肌骨

Unfortunately, there are no great treatments for Duchenne or Becker muscular dystrophy.

DMDBMD暂时没有好治疗方法。

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Osmosis-肌骨

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肌营养不良,其些基因编码形成抗肌萎缩蛋白相关蛋白复合体蛋白质。

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