|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
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 |
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 |
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. Novel mutation of the dystrophin gene.
|
7755293 |
1995 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.
|
8504498 |
1993 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy.
|
11726549 |
2001 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Dystrophin, the protein product of the Duchenne and X-linked dilated cardiomyopathy locus, links cytoskeletal and membrane elements.
|
15117830 |
2004 |
|
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 |
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 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.
|
25612904 |
2015 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy.
|
16834926 |
2006 |
|
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 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.
|
8401582 |
1993 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
A population-based study of dystrophin mutations in Canada.
|
21515508 |
2011 |
|
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 |
CausalMutation
|
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 |
CLINVAR |
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.
|
17854090 |
2008 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
As the muscle (M) isoform of dystrophin is not expressed in these patients, the absence of skeletal muscle symptoms has been attributed to expression of the brain (B) and cerebellar Purkinje (CP) isoforms of dystrophin in skeletal, but not cardiac, muscles of XLCM patients.
|
15385445 |
2004 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies.
|
24265581 |
2013 |