|
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Cardiomyopathy is a leading cause of morbidity and mortality in both patients and carriers of DMD, BMD and X-linked dilated cardiomyopathy.
|
16987891 |
2006 |
|
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 |
Biomarker
|
disease |
BEFREE |
Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophy (DMD and BMD), as well as X-linked dilated cardiomyopathy.
|
12632325 |
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 |
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 |
PosttranslationalModification
|
disease |
BEFREE |
This is the first comprehensive scanning of the dystrophin gene in XLCM.
|
12354438 |
2002 |
|
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 |
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 |
BEFREE |
We speculate that this insertion of an L1 sequence in DMD is responsible for some of the population of Japanese patients with XLDCM.
|
9618170 |
1998 |
|
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 |
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 |
Despite promoter tissue specificity, up-regulation of the brain and Purkinje cell type dystrophin isoforms was described in skeletal muscle of X-linked dilated cardiomyopathy (XLDCM) and BMD affected individuals.
|
11412872 |
2001 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to analyze the originally described family with XLCM (and other) for dystrophin mutations.
|
9170407 |
1997 |