Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.
|
29581631 |
2017 |
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
|
21396098 |
2011 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.
|
19409785 |
2009 |
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 |
CausalMutation
|
disease |
CLINVAR |
The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test.
|
7668256 |
1995 |
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 |
Biomarker
|
disease |
CTD_human |
|
|
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Point mutations in the dystrophin gene.
|
1549596 |
1992 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
|
23536893 |
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 |
CausalMutation
|
disease |
CLINVAR |
Novel point mutations in the dystrophin gene.
|
9298822 |
1997 |
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 |
CausalMutation
|
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 |
CausalMutation
|
disease |
CLINVAR |
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort.
|
15723292 |
2005 |
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 |
CausalMutation
|
disease |
CLINVAR |
Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26.
|
27515321 |
2016 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
|
19001018 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMDBMD: a multi-population diagnostic study.
|
23756440 |
2014 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Our report underlines the complexity of the pathogenic mechanism leading to X-linked dilated cardiomyopathy but suggests that differences in tissue-specific expression of dystrophin mutations may be a common feature in this condition.
|
9683584 |
1998 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.
|
10909857 |
2000 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Three novel point mutations in the dystrophin gene in DMD patients.
|
9143930 |
1997 |