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Social deprivation in Duchenne muscular dystrophy: population based study

机译:杜氏肌营养不良症的社会剥夺:基于人群的研究

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摘要

Duchenne muscular dystrophy is an X linked disorder affecting approximately 1 in 3500 male live births. The incidence remains stable in most populations, maintained by a high rate of new mutations in the dystrophin gene.1 We observed that a higher than expected proportion of families of patients with Duchenne muscular dystrophy seemed to be from a deprived background, even at the time of first diagnosis (usually by age 5). We measured the level of material deprivation based on the place of residence at the time of diagnosis of all patients with Duchenne muscular dystrophy in the north of England to test the hypothesis that this single gene disorder is associated with social deprivation.
机译:杜氏肌营养不良症是一种 X 连锁疾病,每 3500 名男性活产婴儿中约有 1 名受到影响。在大多数人群中,发病率保持稳定,这是由于抗肌萎缩蛋白基因的新突变率很高.1 我们观察到,杜氏肌营养不良症患者家庭的比例似乎高于预期,即使在首次诊断时(通常在 5 岁时)。我们根据英格兰北部所有杜氏肌营养不良症患者诊断时的居住地测量了物质剥夺的程度,以检验这种单基因疾病与社会剥夺相关的假设。

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