Background: Mutation of the Duchenne muscular dystrophy (DMD) gene causes Duchenne and Becker muscular dystrophy, degenerative neuromuscular disorders that primarily affect voluntary muscles. However, increasing evidence implicates DMD in the development of all major cancer types. DMD is a large gene ...
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 wheelchair bound around the age of 8–10 years and usually die before the age of 20 years. The mutation rate, estimated by different methods a...
function. In healthy muscle, dystrophin interacts with other proteins at the cell membrane to stabilize and protect the cell during regular activity involving muscle contraction and relaxation. Genetic testing can confirm the diagnosis and identify the disease-causing mutation in the dystrophin gene. ...
B. The rate of spontaneous mutation of a human gene. 1935. J. Genet. 83, 235–244 (2004). Article CAS PubMed Google Scholar Helderman-van den Enden, A. T. et al. Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy. Clin. Genet. 75, 465–472 (2009...
Duchenne型肌营养不良 Duchenne muscular dystrophy (DMD) 一种由于DMD基因变异引起的以进行性、对称性肌肉无力和萎缩为主要特征的X连锁隐性遗传神经肌肉病,也是最常见的进行性肌营养不良 [1-6]。 命名1868年,由法国神经科医生Duchenne de Boulogne首次详细报道并提出诊断标准,故而以其姓氏命名 [2, 7]。
Zhang Q, Wu D, Xiao H, et al.Unexpected detection of Duchenne muscular dystrophy gene mutation by array comparative genomic hybridization in prenatal diagnosis: a retrospective analysis[J].Chin J Perinat Med,2021,24(8):60...
The "Duchenne Muscular Dystrophy Drugs - Market Analysis, Trends, and Forecasts" report has been added to ResearchAndMarkets.com's offering. Global Duchenne Muscular Dystrophy Drugs Market Report, 2019-2025 - Mutation Suppression Displays the Potential to Grow at Over 40.2% The company said EMFLAZA...
Viltepso is an antisense oliogonucleotide indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping. Vyondys 53(golodirsen) Injection
Duchenne型肌营养不良 Duchenne muscular dystrophy (DMD) 一种由于DMD 基因变异引起的以进行性、对称性肌肉无力和萎缩为主要特征的X连锁隐性遗传神经肌肉病,也是最常见的进行性肌营养不良 [1-6]。 图片 命名1868年,由法国神经科医生Duchenne de Boulogne首次详细报道并提出诊断标准,故而以其姓氏命名 [2, 7]。
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. The severe Duchenne and milder Becker muscular dystrophy are both caused by mutations in the DMD gene. This gene codes for dystrophin, a pro...