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 GeneticVariation disease BEFREE Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations. 10480348 1999
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscular dystrophies. 12102170 2002
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Duchenne/Becker muscular dystrophy (DMD/BMD) is a progressive muscle-wasting disease. 1362673 1992
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD, BMD) have both been clinically recognized for over 100 years, yet throughout much of that time nothing beyond clinical evaluation and supportive care during the disease course was available to patients. 1412702 1992
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Duchenne and Becker Muscular Dystrophy (DMD and BMD) are caused, in the majority of cases, by deletions in the dystrophin gene ( DMD). 15118904 2004
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Duchenne/Becker muscular dystrophy (DMD/BMD), the most common X-linked muscular dystrophy is caused by mutations in the enormously large DMD gene, encoding the protein called dystrophin. 18653336 2008
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Duchenne/Becker muscular dystrophy (DMD/BMD) is caused by large deletions or duplications in two-thirds of the cases. 19409785 2009
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease BEFREE Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) are allelic disorders with different clinical presentations and severity determined by mutations in the gene DMD, which encodes the sarcolemmal protein dystrophin. 21399986 2011
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 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 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 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 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD and BMD) genes are located in Xp21 on the short arm of the X chromosome. 2821406 1987
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 Duchenne and Becker muscular dystrophy (DMD/BMD) are allelic variants caused by mutations in gene-encoding dystrophin. 7900621 1995
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Duchenne/Becker muscular dystrophy (DMD/BMD) is a severe X-linked myopathy. 8737397 1996
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy. 14977063 2004
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease BEFREE Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives. 19084397 2009
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease BEFREE Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and western blot. 1944822 1991
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease BEFREE Dystrophin analysis in Duchenne and Becker muscular dystrophy carriers: correlation with intracellular calcium and albumin. 1979724 1990
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease BEFREE Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene. 2683261 1989
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease BEFREE Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy. 8429320 1993
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease BEFREE Dystrophin-associated protein abnormalities in dystrophin-deficient muscle fibers from symptomatic and asymptomatic Duchenne/Becker muscular dystrophy carriers. 8891069 1996
Duchenne and Becker Muscular Dystrophy
0.400 Biomarker disease BEFREE Dystrophin has been identified as the gene responsible for X-linked dilated cardiomyopathy and this protein, which is also responsible for Duchenne and Becker muscular dystrophy, plays an important role in myocyte and cardiomyocyte function. 9484605 1998
Duchenne and Becker Muscular Dystrophy
0.400 GeneticVariation disease BEFREE A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. 2227948 1990