The first diagnostic test used in patients suspected of DMD is the measurement of serum creatine kinase (CK) levels. Markedly elevated serum CK activities are observed in both DMD and BMD patients ( 1 ). Muscle biopsies of these patients will then be examined (immuno)histochemically. In ...
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...
Key words:Duchenne muscular dystrophygene deletionjunction fragmentcarrier detection Duchenne 型肌营养不良症(Duchenne musculardystrophy,DMD)是临床常见的以骨骼肌损害为主要表现的致死性X-连锁隐性遗传病。DMD基因大片段缺失是导致该病的主要突变类型[1-3]。DMD迄今无有效的治疗方法,进行携带者检测和产前诊断防止患儿...
The importance of genetic diagnosis for Duchenne muscular dystrophy. J. Med. Genet. 53, 145–151 (2016). Educational paper on how different mutations cause DMD and how they can be detected with diagnostic techniques. Article CAS PubMed Google Scholar Verhaart, I. E. C. & Aartsma-Rus, ...
mutations in theDMDgene, BMD patients express varying levels of dystrophin protein. Enhanced genetic testing and genotype definition in the dystrophinopathies has led to a growing understanding of the genotype-phenotype relationship that is proving beneficial for diagnostic and treatment purposes [2,176...
The first diagnostic test used in patients suspected of DMD is the measurement of serum creatine kinase (CK) levels. Markedly elevated serum CK activities are observed in both DMD and BMD patients ( 1 ). Muscle biopsies of these patients will then be examined (immuno)histochemically. In ...
A standard-dose corticotropin (ACTH) stimulation test measuring cortisol at baseline and 30 and 60 minutes after tetracosactide (Synacthen), 250 μg, diagnostic testing was done at screening and week 24. Pharmacodynamic safety biomarkers (bone turnover and morning cortisol) were done at baseline...
There is currently an urgent need for biomarkers that can be used to monitor the efficacy of experimental therapies for Duchenne Muscular Dystrophy (DMD) in clinical trials. Identification of novel protein biomarkers has been limited due to the massive complexity of the serum proteome and the presen...
When DMD is strongly suspected, we recommend performing a genetic study, since this may prevent the need for a muscle biopsy, which is an invasive diagnostic test.26 The first test is usually the multiplex ligation-dependent probe amplification (MLPA) to detect the exons involved in deletions an...
The importance of genetic diagnosis for Duchenne muscular dystrophy. J. Med. Genet. 53, 145–151 (2016). Educational paper on how different mutations cause DMD and how they can be detected with diagnostic techniques. Article CAS PubMed Google Scholar Verhaart, I. E. C. & Aartsma-Rus, ...