|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Despite numerous reports about dystrophin alterations in Duchenne and Becker muscular dystrophies and dilated cardiomyopathy, the function of dystrophin gene promoters has not yet been completely elucidated.
|
12031623 |
2002 |
|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
BEFREE |
We have previously shown in a large X-linked pedigree that a deletion removing the dystrophin muscle promoter, the first muscle exon and part of intron 1 caused a severe dilated cardiomyopathy with no associated muscle weakness.
|
7635962 |
1995 |
|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
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 |
|
Cardiomyopathy, Dilated
|
0.700 |
Biomarker
|
group |
BEFREE |
To assess the prevalence of dystrophin defects in dilated cardiomyopathy (DCM) in male patients and to formulate investigation strategies for their identification.
|
10841222 |
2000 |
|
Cardiomyopathy, Dilated
|
0.700 |
Biomarker
|
group |
BEFREE |
DMD patients lack dystrophin protein and develop skeletal muscle pathology and dilated cardiomyopathy (DCM).
|
23283493 |
2013 |
|
Cardiomyopathy, Dilated
|
0.700 |
Biomarker
|
group |
BEFREE |
In this review, we summarize the structure and distribution of dystrophin and researches of dystrophin in genetic and viral dilated cardiomyopathy.
|
18562127 |
2008 |
|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Novel mutation in splicing donor of dystrophin gene first exon in a patient with dilated cardiomyopathy but no clinical signs of skeletal myopathy.
|
17715288 |
2007 |
|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Coupled with previous data showing that dystrophin mutations also cause dilated cardiomyopathy, these results raise the possibility that defective transmission of force in cardiac myocytes is a mechanism underlying heart failure.
|
9563954 |
1998 |
|
Cardiomyopathy, Dilated
|
0.700 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
Cardiomyopathy, Dilated
|
0.700 |
Biomarker
|
group |
HPO |
|
|
|
|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in the dystrophin gene have been associated with the X-linked form of dilated cardiomyopathy.
|
12354438 |
2002 |
|
Cardiomyopathy, Dilated
|
0.700 |
Biomarker
|
group |
BEFREE |
Molecular analysis of the Duchenne muscular dystrophy (DMD) gene was performed on 4 unrelated patients with Becker muscular dystrophy (BMD) presenting with dilated cardiomyopathy.
|
8413368 |
1993 |
|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
BEFREE |
9 Doberman Pinschers, 1 Dalmation, and 1 Saint Bernard with dilated cardiomyopathy (DCM); 1 Irish Terrier with muscular dystrophy; and 2 dystrophin-deficient German Shorthaired Pointers (GSHP).
|
10490068 |
1999 |
|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
BEFREE |
It may be prudent to measure CK-MM in all patients with dilated cardiomyopathy to identify candidates at high risk for dystrophin mutations.
|
12359139 |
2003 |
|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in sarcoglycans and other subunits of the dystrophin-glycoprotein complex cause muscular dystrophy and dilated cardiomyopathy in animals and humans.
|
24334334 |
2014 |
|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
BEFREE |
We recently described a family where a deletion of the dystrophin gene was associated with a severe dilated cardiomyopathy without skeletal muscle weakness.
|
7825571 |
1995 |
|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
BEFREE |
A novel dystrophin deletion mutation in a becker muscular dystrophy patient with early-onset dilated cardiomyopathy.
|
24996370 |
2014 |
|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
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, Dilated
|
0.700 |
Biomarker
|
group |
CTD_human |
[Female carrier of Duchenne muscular dystrophy presenting with secondary dilated cardiomyopathy: a case report].
|
11496434 |
2001 |
|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
LHGDN |
Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy.
|
12359139 |
2003 |
|
Cardiomyopathy, Dilated
|
0.700 |
Biomarker
|
group |
BEFREE |
By analogy with dystrophin, it is believed that other cytoskeletal proteins could be involved in the pathogenesis of DC.
|
9243088 |
1997 |
|
Cardiomyopathy, Dilated
|
0.700 |
Biomarker
|
group |
BEFREE |
Infection with enteroviruses like coxsackievirus B3 (CVB3) as well as genetic dystrophin deficiency can cause dilated cardiomyopathy.
|
11056105 |
2000 |
|
Cardiomyopathy, Dilated
|
0.700 |
Biomarker
|
group |
BEFREE |
Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated.
|
16380627 |
2005 |
|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Therefore we tested whether NT-proBNP can distinguish patients with Duchenne or Becker muscular dystrophy patients and carriers of a dystrophin mutation with a dilated cardiomyopathy from those without.
|
23870371 |
2013 |
|
Cardiomyopathy, Dilated
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27.
|
25537791 |
2015 |