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单词 Pseudohypertrophic dystrophy
释义

Pseudohypertrophic dystrophy

中文百科

杜兴氏肌肉营养不良症 Duchenne muscular dystrophy

(重定向自Pseudohypertrophic dystrophy)

杜兴氏肌肉营养不良症英语:Duchenne Muscular Dystrophy,缩写DMD),又称杜显氏肌肉萎缩症杜氏肌肉萎缩症假性肥大型肌肉萎缩症,是一种性联隐性遗传病,为症状最严重的肌肉萎缩症。由于基因突变缺陷导致肌肉细胞不能正常产生一种称为Dystrophin的蛋白质,使钙离子渗入细胞,引发瀑布反应,导致患者全身肌肉无力,又因肌肉细胞内缺少Dystrophin,导致细胞组织肌肉纤维变得无力且脆弱,经长期的伸展后该缺失肌肉细胞组织将产生机械性伤害等因素而破坏,最终导致肌肉细胞死亡。大约65%的病例是经由性染色体隐性遗传而来;35%的病例则由于基因突变。

英语百科

Duchenne muscular dystrophy 杜兴氏肌肉营养不良症

(重定向自Pseudohypertrophic dystrophy)
DMD is inherited in a X-linked recessive manner

Duchenne muscular dystrophy (DMD) is an X-linked recessive form of muscular dystrophy, affecting around 1 in 3,600 boys, which results in muscle degeneration and premature death. The disorder is caused by a mutation in the gene dystrophin, located on the human X chromosome, which codes for the protein dystrophin. Dystrophin is an important component within muscle tissue that provides structural stability to the dystroglycan complex (DGC) of the cell membrane. While both sexes can carry the mutation, females are rarely affected.

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更新时间:2025/6/19 22:29:25