Cardiomyopathy, Familial Idiopathic
|
0.400 |
Biomarker
|
disease |
BEFREE |
We noted a higher percentage of SERCA1-positive cells in the MMVD group and lower percentage of dystrophin-positive cells in the DCM group as compared to control group.
|
28612341 |
2017 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
Biomarker
|
disease |
BEFREE |
These studies demonstrate that DCM mutations in δ-sarcoglycan can exert a dominant negative effect on dystrophin-glycoprotein complex function leading to myocardial mechanical instability that may underlie the pathogenesis of δ-sarcoglycan-associated DCM.
|
26968544 |
2016 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition, this patient carried a rare mutation of dystrophin gene that might be a new genetic predisposition to early-onset DCM in BMD.
|
24996370 |
2014 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
Biomarker
|
disease |
BEFREE |
We hypothesized that mesoangioblast stem cells (aorta-derived mesoangioblasts [ADMs]) would restore dystrophin and alleviate or prevent DCM in animal models of DMD.
|
23283493 |
2013 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Somatic DMD mutations should be considered in patients presenting with idiopathic dilated cardiomyopathy.
|
22092019 |
2012 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Importantly, expression of a miniDmd can largely rescue the DCM phenotypes, indicating that Dmd is a major target mediating DOT1L function in cardiomyocytes.
|
21289070 |
2011 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We sought to describe the diagnostic work-up, phenotype, and long-term evolution of dilated cardiomyopathy (DCM) associated with Dystrophin (DYS) defects.
|
21851881 |
2011 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
Biomarker
|
disease |
BEFREE |
The etiology of familial risk was not evident in this pedigree before retrospective cardiovascular genetics assessment, highlighting ongoing diagnostic challenges and limitations of standardized screening panels (which do not include dystrophin) in patients with "idiopathic" DCM.
|
20206892 |
2010 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Our results suggest that reduced expression of dystrophin and titin is associated with the pathophysiology of DCM, and TNF-alpha may modulate the expression of these proteins via NF-kappaB pathway.
|
20373002 |
2010 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although cases of adult patients with DCM caused by mutations of the genes encoding sarcomeric or cytoskeletal proteins of cardiomyocytes are infrequent in Japan, it may be advisable to screen older DCM patients for MYBPC3 mutations, and male patients with familial DCM for dystrophin mutations.
|
15671604 |
2005 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that early diagnosis and treatment of DCM in DMD/BMD patients would lead to ventricular remodeling and that specific dystrophin gene mutations would predict cardiac involvement.
|
16246949 |
2005 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
Biomarker
|
disease |
BEFREE |
We investigated the integrity of dystrophin in left ventricle (LV) and right ventricle (RV) of patients with end-stage heart failure due to ischemic cardiomyopathy (IHD) or dilated cardiomyopathy (DCM), and compared the efficacy of pulsatile or continuous flow assist devices on dystrophin reverse remodeling.
|
14998622 |
2004 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that missense mutations and other less severe mutations of the dystrophin gene might predispose to the common form of sporadic DCM.
|
12359139 |
2003 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
Biomarker
|
disease |
CTD_human |
[Female carrier of Duchenne muscular dystrophy presenting with secondary dilated cardiomyopathy: a case report].
|
11496434 |
2001 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we report the screening of the human delta-sarcoglycan gene, a member of the dystrophin-associated protein complex, by single-stranded DNA conformation polymorphism analysis and by DNA sequencing in patients with DCM.
|
10974018 |
2000 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dystrophin defects presenting with predominant or exclusive cardiac involvement may be clinically indistinguishable from "idiopathic" DCM.
|
10841222 |
2000 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have ruled out a major rearrangement of the dystrophin promoter region as the universal cause of DCM in Doberman Pinschers or of Irish Terrier myopathy.
|
10490068 |
1999 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, a number of distinct subtypes of FDC were identified: 1) autosomal dominant, the most frequent form (56%); 2) autosomal recessive (16%), characterized by worse prognosis; 3) X-linked FDC (10%), with different mutations of the dystrophin gene; 4) a novel form of autosomal dominant DCM with subclinical skeletal muscle disease (7.7%); 5) FDC with conduction defects (2.6%), and 6) rare unclassifiable forms (7.7%).
|
10400009 |
1999 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy.
|
9470882 |
1997 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Extensive analyses of the dystrophin gene, in particular of the sequences coding for the antigenic determinants of the dys-1 antibody in the mid rod region, may identify the molecular cause of this monogenetic form of DCM.
|
7755293 |
1995 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
Biomarker
|
disease |
BEFREE |
These data suggest that dystrophin defects are not a common cause of idiopathic DCM in this age group in the absence of skeletal muscle cramps or weakness.
|
8301653 |
1993 |