Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked dilated cardiomyopathy is a pure cardiac dystrophinopathy phenotype mainly caused by DMD mutations that present a specific transcription effect in cardiac tissue.
|
22092019 |
2012 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked dilated cardiomyopathy and the dystrophin gene.
|
10407857 |
1999 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
|
19602481 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin localizes at the X chromosome, whose mutations might result in Duchenne muscular dystrophy, Becker muscular dystrophy and X-linked dilated cardiomyopathy.
|
18562127 |
2008 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.
|
23453023 |
2013 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A case report with the peculiar concomitance of 2 different genetic syndromes.
|
27930565 |
2016 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.
|
25900853 |
2016 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The only known disease gene is the dystrophin gene causing X-linked dilated cardiomyopathy, but other cytoskeletal proteins, such as adhalin, could be involved.
|
9891591 |
1998 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.
|
22223181 |
2012 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Consistently, XLDCM patients have decreased levels of dystrophin in cardiac muscle.
|
25340340 |
2014 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy.
|
10832829 |
2000 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia.
|
29901616 |
2018 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy.
|
15094399 |
2004 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC).
|
19937601 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a decade later in one of the original two families.
|
17899313 |
2007 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy.
|
12359139 |
2003 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We analyzed 78 BMD and X-linked dilated cardiomyopathy patients with common deletion mutations predicted to alter the dystrophin protein and correlated their mutations to cardiomyopathy age of onset.
|
20031633 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy.
|
7825571 |
1995 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X linked dilated cardiomyopathy is a familial disease that is allelic to Duchenne and Becker muscular dystrophies and caused by mutations in the dystrophin gene.
|
15253946 |
2004 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
|
23536893 |
2013 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy.
|
8789442 |
1996 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic studies have delineated the gene for BTHS, which maps to distal Xq28, from the gene for so called X linked dilated cardiomyopathy (XLCM), a teenage onset dilated cardiomyopathy, recently mapped to the 5' portion of the dystrophin locus at Xp21.
|
7616547 |
1995 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.
|
12754707 |
2003 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
|
17259292 |
2007 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A functional role for these sequences was suggested by a pure intronic DMD deletion causing X-linked dilated cardiomyopathy through the prevalent cardiac incorporation of the aberrant pseudo-exon, marked as Alu-exon, into the dystrophin transcript.
|
20486769 |
2010 |