Duchenne muscular dystrophy (DMD) is a genomic disorder characterized by progressive muscle wasting and weakness due to the absence or abnormal function of dystrophin; a protein that protects muscle cells from mechanical induced stress during contraction. Mutations in the DMD gene, may lead to ...
A study of 555 patients further solidified genotype-phenotype correlations in Duchenne muscular dystrophy (DMD). September 27th 2024 WVE-N531 Shows Promising Efficacy in DMD at Interim FORWARD-53 Analysis Rose McNulty In the phase 2 FORWARD-53 study, the exon-skipping oligonucleotide WVE-N531 show...
et al. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum. Mutat. 30, 934–945 (2009). Article CAS PubMed Google Scholar Eagle, M. et al. Managing Duchenne muscular dystrophy–the additive effect of...
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...
Genotype and Age at Diagnosis in Thai Boys with Duchenne Muscular Dystrophy (DMD)Gene-based therapy is a treatment for Duchenne muscular dystrophy (DMD) has become lately available; limited use for specific of mutation and percentages of the patients. Diagnosis in Thailand is made by muscle ...
Genotype-Phenotype Correlations The existence of ‘hot-spots’ forDMDgene mutations, and exceptions to the reading frame hypothesis [2], has instigated many DMD and Becker muscular dystrophy (BMD) genotype-phenotype relationship studies. BMD is a milder condition caused by in-frame mutations in the...
Duchenne muscular dystrophy (DMD) affecting 1 in 3500–5000 live male newborns is the frequently fatal genetic disease resulted from various mutations in DMD gene encoding dystrophin protein. About 70% of DMD-causing mutations are exon deletion leading t
Dystrophin: the protein product of the duchenne muscular dystrophy locus. Cell. 1987;51(6):919–28. https://doi.org/10.1016/0092-8674(87)90579-4. Article CAS PubMed Google Scholar Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, et al. Genotype-...
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy Neurology, 76 (2011), pp. 219-226 View in ScopusGoogle Scholar Piva et al., 2012 L. Piva, B.F. Gavassini, L. Bello, M. Fanin, G. Soraru, A. Barp, M. Ermani, C. Angelini, E.P. Hoffman, E. ...
et al. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum. Mutat. 30, 934–945 (2009). Article CAS PubMed Google Scholar Eagle, M. et al. Managing Duchenne muscular dystrophy–the additive effect of...