Li X, Zhao L, Zhou S,et al.A comprehensive database of Duchenne and Becker muscular dystrophy patients (0–18 years old) in East China[J]. Orphanet Journal of Rare Diseases, 2015, 10: 5. Bushby K, Finkel R, Birnkrant DJ,et al.Diagnosis and management of Duchenne muscular dystrophy, ...
Duchenne muscular dystrophy: genetics aspects, carrier detection and antenatal diagnosis. Br Med Bull, v. 36, p. 117-22, 1980.Emery AEH. Duchenne muscular dystrophy: genetic aspects, carrier detection and antenatal diagnosis. Br Med Bull 1980; 36: 117-122....
Duchenne muscular dystrophy (oxford monographs on medical genetics 15) (revised edn) : by Alan E. H. Emery, Oxford University Press, 1988. £17.50 (317 pages) ISBN 0 19 261798 2This chapter focuses on proopiomelanocortin-based (POMC) opioid peptide. The major opioid peptide derived from ...
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]。 流...
Combining genetics, neuropsychology and neuroimaging to improve understanding of brain involvement in Duchenne muscular dystrophy — a narrative review. Neuromuscul. Disord. 30, 437–442 (2020). Comprehensive and clear review on brain involvement of dystrophin. Article PubMed Google Scholar Birnkrant, ...
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GeneticsTechnologyMedical BiotechnologyDuchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy, arises fromDMDgene mutations, affecting the production of muscle dystrophin protein. Brain dystrophin-gene products are also transcribed via internal promoters. Their deficiency contributes to ...
Read More About Neurology Neuromuscular Diseases Muscular Dystrophy Genetics and Genomics Pediatrics Download PDF Full Text Cite This Permissions Comment Access through your institution JAMA+ AI Trending Research Spending on Targeted Therapies for Duchenne Muscular Dystrophy March 11, 2024 ...
Duchenne muscular dystrophy is a fatal, X-linked neuromuscular disease that results in progressive loss of muscle function. It is caused by alterations in the dystrophin gene (DMD) that reduce dystrophin protein production to less than 3% of the normal level.2Signs of Duchenne muscular dy...
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 dystrophi