|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.
|
14659407 |
2004 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
|
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 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.
|
16770791 |
2006 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe a previously healthy 16-year-old boy who presented with palpitations progressing to heart failure who was ultimately found to have a novel duplication of exons 13-16 in the dystrophin gene resulting in diagnosis of X-linked dilated cardiomyopathy.
|
26294044 |
2015 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
|
19937601 |
2009 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The purpose of this study was to analyze the originally described family with XLCM (and other) for dystrophin mutations.
|
9170407 |
1997 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We characterised a dystrophin gene rearrangement in a previously described family with X-linked dilated cardiomyopathy and we demonstrated that it represents an 11 kb deletion occurring within intron 11.
|
12853135 |
2003 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our analysis represents the first report of a prenatal diagnosis in XLDC and also indicates the feasibility of dystrophin mutation detection on RNA from amniocytes.
|
15641026 |
2005 |
|
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
|
20485447 |
2010 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Decrease in stability and increase in unfolding decrease the net population of dystrophin molecules available for function, which might trigger XLDCM.
|
25340340 |
2014 |
|
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 |
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 |