|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
HPO |
|
|
|
|
Cardiomyopathies
|
0.700 |
AlteredExpression
|
group |
BEFREE |
The absence of dystrophin and the down-regulation of the dystrophin-associated proteins in the heart accounted for the severe cardiomyopathy in this family.
|
7635962 |
1995 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
X-chromosome inactivation was shown to be the basis of cardiomyopathy in women with a single mutated dystrophin allele.
|
7787263 |
1995 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Because genetic analysis cannot determine the correct diagnosis in 35% of DMD/BMD cases, we recommend routine examination of immunostaining patterns of dystrophin in endomyocardial biopsy specimens in patients with cardiomyopathy suspected to be the result of BMD.
|
7900621 |
1995 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutation of dystrophin gene and cardiomyopathy.
|
7981594 |
1994 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
The cardiomyopathy of Duchenne's muscular dystrophy and the function of dystrophin.
|
8502196 |
1993 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
All dystrophin-associated proteins are decreased in abundance in the cardiomyopathic hamster heart, perhaps explaining why the cardiomyopathy is more severe than the myopathy.
|
8505286 |
1993 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency.
|
8784804 |
1996 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Contrary to previous reports, which indicated the involvement of 5'-end mutations in cardiomyopathies as a result of dystrophin gene alterations, this study shows that despite the apparent concentration of deletions in two regions (5'-end and exons 47 through 49), no general conclusions can be drawn regarding the involvement of specific gene mutations in the development of cardiomyopathy.
|
8989125 |
1996 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
A 5' dystrophin duplication mutation causes membrane deficiency of alpha-dystroglycan in a family with X-linked cardiomyopathy.
|
9441825 |
1997 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Thus current research efforts into the elucidation of the molecular mechanisms underlying these genetic diseases are not only directed towards studying skeletal muscle necrosis but also investigate abnormalities of heart and brain dystrophin-glycoprotein complexes in cardiomyopathy and brain deficiencies associated with muscular dystrophy.
|
9850730 |
1998 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Left ventricular thrombosis and systemic emboli have been demonstrated to complicate cardiomyopathy in Duchenne and Becker muscular dystrophy (DMD, BMD).
|
10235436 |
1999 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
We recently identified cleavage and functional impairment of dystrophin by the viral protease 2A during CVB3-infection as a molecular mechanism that may contribute to the pathogenesis of enterovirus-induced cardiomyopathy.
|
11056105 |
2000 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
We report the first case of a DNA segment deletion encompassing promoters M and P of the human dystrophin gene, which caused a very severe muscle phenotype without cardiomyopathy, in a 13-year-old boy.
|
12031623 |
2002 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
These results indicate that viral infection can influence the severity and penetrance of the cardiomyopathy that occurs in the hearts of dystrophin-deficient individuals.
|
12118246 |
2002 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
These results show that lack of dystrophin is commonly associated with changes in myocardial features well before the onset of changes of systolic function and overt cardiomyopathy.
|
12875769 |
2003 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CTD_human |
Systemic administration of micro-dystrophin restores cardiac geometry and prevents dobutamine-induced cardiac pump failure.
|
17440445 |
2007 |
|
Cardiomyopathies
|
0.700 |
Therapeutic
|
group |
CTD_human |
Systemic administration of micro-dystrophin restores cardiac geometry and prevents dobutamine-induced cardiac pump failure.
|
17440445 |
2007 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CTD_human |
Combined deficiency of dystrophin and beta1 integrin in the cardiac myocyte causes myocardial dysfunction, fibrosis and calcification.
|
18340010 |
2008 |
|
Cardiomyopathies
|
0.700 |
Therapeutic
|
group |
CTD_human |
Combined deficiency of dystrophin and beta1 integrin in the cardiac myocyte causes myocardial dysfunction, fibrosis and calcification.
|
18340010 |
2008 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Females with dystrophin mutations are at risk for cardiomyopathy, but are usually asymptomatic during childhood.
|
19449433 |
2009 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
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 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Young males presenting with apparent isolated cardiomyopathy or acute myocarditis may harbor dystrophin mutations without overt skeletal muscle pathology.
|
20206892 |
2010 |