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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 GeneticVariation group BEFREE In the Duchenne muscular dystrophy (DMD) syndrome, mutations affecting expression of Dp71, the main dystrophin isoform of the multipromoter dmd gene in brain, have been associated with intellectual disability and neuropsychiatric disturbances. 30051354 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 GeneticVariation group BEFREE A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability. 26836830 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 Biomarker group BEFREE Males with mutations at the 3' end of the DMD gene affecting all protein isoforms had higher rates of intellectual disability and clusters of symptoms. 26365034 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 GeneticVariation group BEFREE In conclusion, we have identified the first DMD mutation in Dp71 that results in ID without muscular dystrophy. 23900271 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 GeneticVariation group BEFREE Mutations in the dystrophin gene have long been recognised as a cause of mental retardation. 21109441 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 GeneticVariation group BEFREE Given the familial and therapeutic implications for accurate diagnosis of DMD mutations, this case raises the possible need for screening boys with global developmental delay/intellectual disability even in the absence of any overt muscle weakness and further shows the utility of comparative genomic hybridization (CGH) analysis in the evaluation of patients with nonsyndromic mental retardation. 19073314 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 Biomarker group BEFREE Deletions in DNA from patients with cGKD who exhibited MR and had normal IL1RAPL1 all involved the GK and DMD genes. 15300857 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 GeneticVariation group BEFREE A novel deletion of the dystrophin S-promoter region cosegregating with mental retardation. 10025804 1999
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 Biomarker group BEFREE Mental retardation in our patient and absence of the b-wave in his electroretinogram indicate that central nervous functions of dystrophin isoforms also depend on the presence of cysteine 3340. 8817332 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 Biomarker group BEFREE A number of data raised the possibility that the C-terminal region of dystrophin might be involved in some cases of mental retardation associated with DMD. 7581396 1995
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 GeneticVariation group BEFREE Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients. 8281150 1993
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 GeneticVariation group BEFREE Our observations in the group of patients who had detected DNA deletions suggest that exon 52 of the dystrophin gene may be functionally significant in the manifestation of MR: 70% (19/27) of patients with a deletion of this exon were mentally retarded, whereas only 38% (15/39) of MR patients had deletions not involving exon 52. 1877622 1991