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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE We studied dystrophin in three young girls with a sporadic myopathy of early onset, manifested by mild to severe limb weakness, calf hypertrophy, high serum creatine kinase, normal karyotype, and morphologic features in muscle consistent with muscular dystrophy. 1714059 1991
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE As there is evidence that apoptosis is part of muscle fibre loss in dystrophin-deficient mdx-mice, apoptotic muscle fibre death may also play a role in humans with muscular dystrophies. 9292873 1997
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Mutations in genes coding for dystrophin, for alpha, beta, gamma, and delta-sarcoglycans, or for the alpha2 chain of the basement membrane component merosin (laminin-2/4) cause various forms of muscular dystrophy. 9312189 1997
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE To begin to establish the rates of false positives (secondary deficiencies), we used immunofluorescence to screen 30 Italian dystrophin-normal muscular dystrophy patient biopsies and identified 4 patients with partial alpha-sarcoglycan deficiency and 2 patients with complete deficiency. 8866424 1996
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles. 29847600 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Currently, multiplex ligation-dependent probe amplification (MLPA) has been recognized as the most powerful and convenient method to identify exon deletions or duplications in the dystrophin gene, the mutation of which causes Duchenne and Becker muscular dystrophies (DMD/BMD). 19473085 2009
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE We have analyzed a series of 35 DNA samples from patients affected with cystic fibrosis (CF), Duchenne and Becker muscular dystrophies (DMD/BMD), or sarcoglycanopathies, and have characterized exonic copy-number changes that have been validated with other methods. 18683213 2008
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited neuromuscular disease. 26911353 2016
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE LVhMyoD transduced cells readily formed striated, multinucleate myotubes expressing a wide range of genes associated with muscular dystrophy (dystrophin, dysferlin, sarcoglycans, caveolin-3) and congenital myopathy (nebulin, actin, desmin, tropomyosin, troponin). 17303423 2007
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Mutations in the gene encoding for the intracellular protein dystrophin cause severe forms of muscular dystrophy. 30360568 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have been identified that are involved in various muscle-wasting and neuromuscular disorders. 23671309 2013
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease CLINVAR
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease CTD_human Mutations in the dystrophin gene that lead to the expression of truncated forms of the dystrophin protein cause muscular dystrophies of varying severities both in humans and in mice. 10797403 2000
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 AlteredExpression disease BEFREE We observed that hASCs injected systemically into the dog cephalic vein are able to reach, engraft, and express human dystrophin in the host GRMD dystrophic muscle up to 6 months after transplantation. 23168016 2012
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Therapeutic disease CTD_human Systemic administration of micro-dystrophin restores cardiac geometry and prevents dobutamine-induced cardiac pump failure. 17440445 2007
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE Dystrophin is bound to a complex of proteins in the muscle membrane, and primary abnormalities of these proteins have now been identified as the cause of some autosomally inherited forms of muscular dystrophy. 9259292 1997
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Genetic testing of Duchenne and Becker muscular dystrophies (DMD/BMD) is a difficult task due to the occurrence of deletions or duplications within dystrophin (DMD) gene that requires dose sensitive tests. 16297882 2006
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease LHGDN Deletions within the dystrophin gene (DMD) account for >70% of mutations leading to Duchenne and Becker muscular dystrophies (DMD and BMD). 16891620 2006
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE Our results suggest that primary adhalin deficiency in patients with muscular dystrophy but normal dystrophin is relatively infrequent, and that adhalin-deficient patients are not restricted to the French population. 7668821 1995
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 AlteredExpression disease BEFREE When transplanted into severe combined immune deficient-X-linked, mouse muscular dystrophy (scid-mdx) mice, pericyte-derived cells colonize host muscle and generate numerous fibres expressing human dystrophin. 17293855 2007
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE Current understanding of dystrophin-related muscular dystrophy and therapeutic challenges ahead. 16934185 2006
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Therapeutic disease CTD_human Mutations in the dystrophin gene that lead to the expression of truncated forms of the dystrophin protein cause muscular dystrophies of varying severities both in humans and in mice. 10797403 2000
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE The genetic defects associated with muscular dystrophy include mutations in dystrophin and its associated glycoproteins, the sarcoglycans. 10679964 2000
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE Deficiencies of adhalin in a particular form of limb-girdle muscular dystrophy, and of merosin in a particular form of congenital muscular dystrophy as well as the newly discovered principle of abnormal tri-nucleotide repeats in myotonic dystrophy are evidence of progress that has also amplified the notion of the dystrophinopathies that the protein-deficient muscular dystrophies can now be considered examples of contributions of the dystrophin-glycoprotein complex across the muscle fiber plasma membrane. 8795845 1996
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies. 27750387 2017