|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutation of dystrophin gene and cardiomyopathy.
|
7981594 |
1994 |
|
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 |
|
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 |
X-chromosome inactivation was shown to be the basis of cardiomyopathy in women with a single mutated dystrophin allele.
|
7787263 |
1995 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations of the dystrophin gene leading to a complete loss of the protein cause Duchenne muscular dystrophy (DMD), frequently associated with severe cardiomyopathy.
|
22248393 |
2012 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Loss-of-function mutations in the genes encoding dystrophin and the associated membrane proteins, the sarcoglycans, produce muscular dystrophy and cardiomyopathy.
|
21138941 |
2011 |
|
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 |
GeneticVariation
|
group |
BEFREE |
We identified a novel dystrophin mutation (p.1667 del Ala), resulting in BMD-associated cardiomyopathy that demonstrated the pathological features of significant fibrofatty replacement in the sub-epicardial layer of the ventricle; further, the high-throughput sequencing is helpful for making an early diagnosis of BMD.
|
30103083 |
2018 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy.
|
29127875 |
2017 |
|
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 |
GeneticVariation
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is associated with severe cardiac complications including cardiomyopathy and cardiac arrhythmias.
|
21677768 |
2011 |
|
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 |
Biomarker
|
group |
BEFREE |
Dystrophin-deficient cardiomyopathy is becoming the dominant cause of death in patients with Duchenne muscular dystrophy (DMD), but its developmental process remains elusive.
|
31611157 |
2020 |
|
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 |
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 |
Dystrophin deficiency leads to ambulation loss and cardiomyopathy.
|
30518686 |
2018 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Dystrophin-deficient Duchenne cardiomyopathy is associated with Duchenne muscular dystrophy (DMD), the most common lethal muscular dystrophy.
|
22318092 |
2012 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Although this minigene fully normalized skeletal muscle force, it only partially corrected electrocardiogram and heart hemodynamics in dystrophin-null mdx mice that had moderate cardiomyopathy.
|
29433343 |
2018 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Proteomic profiling of the dystrophin-deficient mdx phenocopy of dystrophinopathy-associated cardiomyopathy.
|
24772416 |
2014 |
|
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 |
In conclusion, low glutathione resource hastens the onset of cardiomyopathy linked to a defect in dystrophin in mdx mice.
|
20696779 |
2010 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
These findings indicate that AAV-mediated cardiac transduction with microdystrophin might be a promising therapeutic strategy for the treatment of dystrophin-deficient cardiomyopathy.
|
21451578 |
2011 |