2024年12月24日 · The DMD gene is the largest known gene in humans. It is 2.4 million base-pairs in size, comprises 79 exons and takes over 16 hours to be transcribed and …

Dystrophin is coded for by the DMD gene – the largest known human gene, covering 2.4 megabases (0.08% of the human genome) at locus Xp21. The primary transcript in muscle …

2025年2月19日 · Title: Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene. Quantitative ultrasonography reveals …

DMD, the largest known human gene, provides instructions for making a protein called dystrophin. This protein is located primarily in muscles used for movement (skeletal muscles) and in heart …

2013年4月18日 · DMD is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by an alteration (mutation) in a gene, called the DMD gene that can be …

杜氏肌营养不良症（Duchenne muscular dystrophy, DMD）是最常见的单基因遗传性疾病之一，该疾病发现于19世纪，也是如今大热的 基因治疗 领域中最受关注的疾病之一。这是由于该疾病 …

2023年7月10日 · Duchenne muscular dystrophy (DMD) is one of the most severe forms of inherited muscular dystrophies. It is the most common hereditary neuromuscular disease and …

Duchenne muscular dystrophy (DMD; OMIM 310200) is an X-linked recessive disorder that affects 1 in 3,500 males and is caused by mutations in the dystrophin gene (Blake et al, 2002). …

2021年2月18日 · Gene therapy for DMD aims to restore the missing dystrophin by providing a functional copy of DMD or by repairing DMD. Gene addition therapy uses viral vectors to …

4 天之前 · Mutations in the Duchenne muscular dystrophy gene, DMD, can lead to a dystrophinopathy; for example, frameshift mutations are causative for Duchenne muscular …