DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Duchenne and Becker Muscular Dystrophy
0.400 AlteredExpression disease BEFREE The method was then tested to measure levels of dystrophin in muscle biopsies from a healthy donor and from Duchenne and Becker's muscular dystrophy patients. 31502334 2020
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene. 31379145 2020
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease BEFREE Defects in neuronal nitric oxide synthase (nNOS) splice variant localization and signaling in skeletal muscle are a firmly established pathogenic characteristic of many neuromuscular diseases, including Duchenne and Becker muscular dystrophy (DMD and BMD, respectively). 30503614 2019
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease BEFREE The dystrophin gene is associated with X-linked recessive Duchenne and Becker muscular dystrophy. 29246534 2018
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Mutation of the gene encoding dystrophin leads to Duchenne and Becker muscular dystrophy (DMD and BMD). 29790927 2018
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease CTD_human Correction of diverse muscular dystrophy mutations in human engineered heart muscle by single-site genome editing. 29404407 2018
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE The Duchenne/Becker muscular dystrophy (DMD) carrier screening includes the evaluation of mutations in DMD gene, and the most widely used analysis is the multiplex ligation-dependent probe amplification (MLPA) for the DMD deletions/duplications detection. 30303263 2018
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE A broad mutational spectrum in the dystrophin (<i>DMD</i>) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD). 28972564 2017
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222 2017
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. 28943641 2017
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD/BMD) are caused by mutations in the dystrophin gene and are characterized by severe and mild progressive muscle wasting, respectively. 28734761 2017
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. 26911353 2016
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD and BMD) are X-chromosomal recessive neuromuscular disorders that are caused by mutations in the dystrophin gene and characterized by cardiac involvement. 27150296 2016
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease CTD_human Assessment of resveratrol, apocynin and taurine on mechanical-metabolic uncoupling and oxidative stress in a mouse model of duchenne muscular dystrophy: A comparison with the gold standard, α-methyl prednisolone. 26930420 2016
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease BEFREE Duchenne and Becker muscular dystrophy severity depends upon the nature and location of the DMD gene lesion and generally correlates with the dystrophin open reading frame. 26745801 2016
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease BEFREE The mild end of the spectrum includes the phenotype of the muscle cramps with myoglobinuria and isolated quadriceps myopathy, while at the severe end, there are progressive muscle diseases that are classified as Duchenne / Becker muscular dystrophy (DMD/BMD). 25416089 2015
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. 25131993 2015
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD/BMD) are both caused by mutations in the DMD gene. 23667215 2014
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy. 25482253 2014
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Germinal mosaicism in a sample of families with Duchenne/Becker muscular dystrophy with partial deletions in the DMD gene. 24236769 2014
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease BEFREE Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy. 24770780 2014
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE The multiplex ligation-dependent probe amplification (MLPA) assay is the most powerful tool in screening for deletions and duplications in the dystrophin gene in patients with Duchenne and Becker muscular dystrophy (DMD/BMD). 23224783 2013
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Here we report the experience of our group in the counselling and molecular prenatal diagnosis of three inherited neuromuscular diseases, i.e., Duchenne/Becker muscular dystrophy (DMD/BMD), myotonic dystrophy type 1 (DM1), spinal muscular atrophy (SMA). 23729582 2013
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy. 23438214 2013
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease CTD_human Nifedipine treatment reduces resting calcium concentration, oxidative and apoptotic gene expression, and improves muscle function in dystrophic mdx mice. 24349043 2013