DMD Gene - GeneCards | DMD Protein | DMD Antibody
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 cotranscriptionally spliced. Three dimensional structures from PDB (representative) for …
Dystrophin - Wikipedia
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 measures about 2,100 kilobases and takes 16 hours to transcribe; [7] the mature mRNA measures 14.0 kilobases. [8]
DMD gene: MedlinePlus Genetics
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 (cardiac) muscle. Small amounts of dystrophin are present in nerve cells in the brain.
About Duchenne Muscular Dystrophy - National Human …
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 inherited in families in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition.
DMD dystrophin [Homo sapiens (human)] - Gene - NCBI
2024年12月10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 skeletal muscle abnormalities in carriers of DMD pathogenic variants.
Duchenne muscular dystrophy - Nature Reviews Disease Primers
2021年2月18日 · Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted...
Duchenne Muscular Dystrophy - StatPearls - NCBI Bookshelf
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 does not exhibit a predilection for any race or ethnic group. Mutations in the dystrophin gene lead to progressive muscle fiber degeneration and weakness.
Duchenne muscular dystrophy: disease mechanism and …
Duchenne muscular dystrophy (DMD) is a severe, progressive, and ultimately fatal disease of skeletal muscle wasting, respiratory insufficiency, and cardiomyopathy. The identification of the dystrophin gene as central to DMD pathogenesis has led to ...
Duchenne muscular dystrophy - Genes and Disease - NCBI Bookshelf
DMD is one of the most prevalent types of muscular dystrophy and is characterized by rapid progression of muscle degeneration that occurs early in life. All are X-linked and affect mainly males—an estimated 1 in 3500 boys worldwide. The gene for DMD, found on the X chromosome, encodes a large protein—dystrophin.
The Role of Genetics in DMD - Duchenne.com
Learn about the types of genetic mutations that cause Duchenne muscular dystrophy (DMD) and the role of genetic testing and genetic counseling.