.png){kind=icon}
返回
Duchenne muscular dystrophy
.png){kind=icon}
OA
AI
DOI：10.1038/s41572-021-00248-3.png)
.png){kind=icon}
.png){kind=icon}
分享.png){kind=icon}
收藏
摘要
En 中文
Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophin) that abolish the production of dystrophin in muscle. Muscles without dystrophin are more sensitive to damage, resulting in progressive loss of muscle tissue and function, in addition to cardiomyopathy. Recent studies have greatly deepened our understanding of the primary and secondary pathogenetic mechanisms. Guidelines for the multidisciplinary care for Duchenne muscular dystrophy that address obtaining a genetic diagnosis and managing the various aspects of the disease have been established. In addition, a number of therapies that aim to restore the missing dystrophin protein or address secondary pathology have received regulatory approval and many others are in clinical development. Duchenne muscular dystrophy is an X-linked progressive, muscle-wasting disease that manifests in childhood as difficulties with movement. This Primer by Aartsma-Rus and colleagues discusses the clinical presentation, epidemiology, pathophysiology, genetic diagnosis and treatment of this disorder.
Keyword:
QUALITY-OF-LIFE
MUSCLE STEM-CELLS
SKELETAL-MUSCLE
NITRIC-OXIDE
GLYCOPROTEIN COMPLEX
NONSENSE MUTATION
GENE-THERAPY
MOUSE MODEL
DMD GENE
OXIDATIVE STRESS
AI总结
对已上传原文的论文进行重点信息的提取，主要内容包括：简要概述、研究摘要、背景介绍、关键亮点、图文解析、展望与总结。
期刊
N
IF:
60.6
论文数:
650
被引数:
3.8W
机构
引用论文
分享收藏Identification of the circRNA-miRNA-mRNA regulatory network of Hsp90 inhibitor-induced cell death in colorectal cancer by integrated analysis.png)
Gene
GeneIF0
PREAI
分享收藏A novel tumour suppressor lncRNA F630028O10Rik inhibits lung cancer angiogenesis by regulating miR‐223‐3p一种新型肿瘤抑制因子lncRNA F630028O10Rik通过调节mir-3p抑制肺癌血管生成223OAAI
OAAI分享收藏
查看更多内容