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 or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE There are over 20 females with Duchenne or Becker muscular dystrophy (DMD or BMD) who have X-autosome translocations that break the X chromosome within band Xp21. 2914705 1989
Duchenne or Becker muscular dystrophy
0.400 Biomarker disease BEFREE Two-thirds of patients affected by Duchenne or Becker muscular dystrophy (DMD/BMD) carry large intra-genic deletions in the dystrophin gene. 9829273 1998
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE Important examples include the dystrophin protein which, when mutated, gives rise to either Duchenne or Becker muscular dystrophy [Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C. and Kunkel, L. M. (1987) Cell 50, 509-517; Monaco, A. P., Bertelson, C. J., Liechti-Gallati, S. & Kunkel, L. M. (1988) Genomics 2, 90-95; Koenig, M., Monaco, A. P. & Kunkel, L. M. (1988) Cell 53, 219-228] and the cystic fibrosis transmembrane conductance regulator (CFTR) [Riordan, J. R., Rommens, J. M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J.-L., Drumm, M. L., Ianuzzi, M. C., Collins, F. S. & Tsui, L.-C. (1989) Science 245, 1066-1073]. 2269271 1990
Duchenne or Becker muscular dystrophy
0.400 Biomarker disease BEFREE Starting from a group of 265 Italian patients affected with Duchenne or Becker muscular dystrophy a screening for duplications in the dystrophin gene was performed on 112 cases in which no deletions had previously been detected. 8034300 1994
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE The identification of mutations in Duchenne or Becker muscular dystrophy (DMD/BMD) patients is important for carrier detection in these families. 9664586 1998
Duchenne or Becker muscular dystrophy
0.400 AlteredExpression disease BEFREE Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered expression of the dystrophin protein. 26022172 2015
Duchenne or Becker muscular dystrophy
0.400 Biomarker disease BEFREE We have analysed over 300 patients suffering from Duchenne or Becker muscular dystrophy (DMD or BMD). 3162536 1988
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE Multiplex Polymerase Chain Reaction (PCR) for 18 different exons of the dystrophin gene was used to characterize the mutations in 29 Cypriot families with Duchenne or Becker Muscular Dystrophy. 7858171 1994
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE The enormous size of the human dystrophin gene (2300 kb) has so far hindered the analysis of its organization and the characterization at the genomic level of the deletion and duplication mutations causing Duchenne or Becker muscular dystrophy. 8000141 1994
Duchenne or Becker muscular dystrophy
0.400 Biomarker disease BEFREE The multiplex polymerase chain reaction (PCR) is a reliable and efficient method for detecting dystrophin gene deletions in about 65% of patients with Duchenne or Becker muscular dystrophy (DMD or BMD). 9524268 1998
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE There are rare female patients who suffer from Duchenne or Becker muscular dystrophy because they carry an X;autosome translocation with a breakpoint in the dystrophin gene. 1483697 1992
Duchenne or Becker muscular dystrophy
0.400 Biomarker disease GENOMICS_ENGLAND
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE Pathogenic mutations in dystrophin result in Duchenne or Becker muscular dystrophy. 10801490 2000
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE Mouse models of two missense mutations in actin-binding domain 1 of dystrophin associated with Duchenne or Becker muscular dystrophy. 29194514 2018
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE It involved quantitative PCR procedures followed by DNA sequence analysis for the identification of dystrophin mutation carriers in 2101 women at risk of being carriers from 348 mutation-known Duchenne or Becker muscular dystrophy pedigrees. 17259292 2007
Duchenne or Becker muscular dystrophy
0.400 Biomarker disease BEFREE In this report, we have developed a novel method to identify compounds that rescue the dystrophin-glycoprotein complex (DGC) in patients with Duchenne or Becker muscular dystrophy. 16192300 2006
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE Mutation-induced exon skipping in the DMD gene can modulate the severity of the phenotype in patients with Duchenne or Becker Muscular Dystrophy. 29067662 2018
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE When used in conjunction with an existing primer set, these two multiplex reactions detect about 98% of deletions in patients with Duchenne or Becker muscular dystrophy (DMD, BMD). 2253937 1990
Duchenne or Becker muscular dystrophy
0.400 Biomarker disease BEFREE Individual translocation chromosomes from six girls suffering from Duchenne or Becker muscular dystrophy (DMD or BMD) have been isolated in human-mouse somatic cell hybrids. 3594934 1987
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE Furthermore, the clinical spectrum of the dystrophinopathies are now such that the clinician needs to be aware of a broader range of clinical disorders that require analysis of the dystrophin gene and its product, not just those that mirror a classic Duchenne or Becker muscular dystrophy picture. 8452597 1993
Duchenne or Becker muscular dystrophy
0.400 Biomarker disease BEFREE Linkage analysis in 31 families with Duchenne or Becker muscular dystrophy has shown recombination within the XJ segment in one case, and recombination of DMD with both the XJ segment and the pERT87 segment in a second, but has revealed no recombination between the XJ and pERT87 segments. 2879926 1986
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE Echo-measures of ventricular function were compared with published norms in a cross-sectional study of 130 (age, 39 ± 15.7 years) "carriers" of Duchenne or Becker muscular dystrophy (DMD/BMD). 27761893 2017
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications. 1362223 1992
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE Using the polymerase chain reaction (PCR) technique, we have screened the DNA of 42 patients with Duchenne or Becker muscular dystrophy for deletions within the DMD gene. 2303244 1990
Duchenne or Becker muscular dystrophy
0.400 GeneticVariation disease BEFREE The aim of this study was to identify point mutations in patients with Duchenne or Becker muscular dystrophy (DMD or BMD) who have no gross DNA rearrangements detectable by Southern blot analysis or multiplex exon amplification. 8257990 1993