Duchenne型肌营养不良(DMD)是肌营养不良中最为常见的一种类型,呈X连锁隐性遗传,其病因为肌纤维中抗体肌萎缩蛋白(muscular dystrophin)缺失导致肌纤维的破坏,肌肉萎缩,失去肌纤维的功能。临床表现为上楼梯、或蹲起困难,病情呈进行性发展,至生活不能自理,最后完全丧失活动能力,多半导致呼吸衰竭或肺部感染而死亡。 DMD的...
Duchenne muscular dystrophy (DMD) is an X-linked recessive hereditary disease caused by mutations in the DMD gene that encodes dystrophin. It is characterized by progressive muscle weakness and degeneration of skeletal muscle and myocardium due to the absence of dystrophin. The disease ...
Duchenne muscular dystrophy (DMD) research in the laboratory of A.A.-R. is currently supported by Duchenne Parent Project, Duchenne UK, Prinses Beatrix Spierfonds, Spieren voor Spieren and the EU Horizon 2020 project BIND. DMD research in the laboratory of D.D. is currently supported by the...
Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the X-linkedDMDgene, leading to an absence of functional dystrophin and continuous muscle damage, beginning from birth1. Impaired motor function can be observed by the age of 3 years and typically progresses to loss of ambul...
Duchenne muscular dystrophy (DMD) is the most common sex linked lethal disease in man (one case in about 4000 male live births). The patients are wheelchai
This article reviewed the most recent clinical trials investigating potential treatments for Duchenne muscular dystrophy (DMD). In the development of these studies, investigators have encountered unexpected challenges that reveal limitations in our understanding of the clinical trial design for this disease....
Duchenne muscular dystrophy (DMD) is a severe, progressive, muscle-wasting disease, characterized by progressive deterioration of skeletal muscle that causes rapid loss of mobility. The failure in respiratory and cardiac muscles is the underlying cause of premature death in most patients with DMD. Mut...
Duchenne muscular distrophy Duchenne muscular dystrophy Duchenne Muscular Dystrophy Research Center Duchenne Muscular Dystrophy/Becker Muscular Dystrophy Duchenne paralysis Duchenne Parent Project Duchenne Progressive Muscular Dystrophy Duchenne sign Duchenne smile Duchenne smile Duchenne syndrome Duchenne type muscular...
Duchenne muscular dystrophy (DMD) is caused by the lack of functional dystrophin protein. Improvements in patient care and disease management have slowed down disease progression, but current treatments cannot stop the relentless loss of muscle tissue and function, which leads to premature death. Rese...
by Université Laval Researchers from Université Laval's Faculty of Medicine and the CHUQ Research Center have proven that it is possible to repair the defective gene responsible for Duchenne muscular dystrophy. The team, led by Professor Jacques P. Tremblay, is presenting its new therapeutic approa...