肌营养不良蛋白
杜氏肌营养不良
肌肉活检
肌营养不良
医学
外显子
内科学
疾病
内分泌学
活检
病理
胃肠病学
生物
遗传学
基因
作者
J.C. van den Bergen,Beatrijs Wokke,Annika Janson,Sjoerd G. van Duinen,Margriet Hulsker,H.B. Ginjaar,Judith C. van Deutekom,Annemieke Aartsma‐Rus,Hermien E. Kan,Jan J.G.M. Verschuuren
标识
DOI:10.1136/jnnp-2013-306350
摘要
Our study shows that dystrophin levels appear not to be a major determinant of disease severity in BMD, as long as it is above approximately 10%. A significant relation between age and disease course was only found in the exon 45-47 deletion subgroup. This suggests that at higher dystrophin levels, the disease course depends more on the mutation site than on the amount of the dystrophin protein produced.
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