rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
9697706
1998
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
10545598
1999
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
10905661
2000
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
10717012
2000
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
11668632
2001
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
12766977
2003
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
14648196
2004
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
14711882
2004
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
Desminopathies in muscle disease.
15495235
2004
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
A novel desmin R355P mutation causes cardiac and skeletal myopathy.
16009553
2005
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
15800015
2005
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
16865695
2006
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
19879535
2009
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
20829228
2010
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
22395865
2012
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
Here we compare the effect nebulin binding has on the assembly kinetics of desmin and three desminopathy -causing mutant desmin variants carrying mutations in the head, rod, or tail domains of desmin (S46F, E245D, and T453I ).
23615443
2013
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.
23687351
2013
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
25394388
2015
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts.
27733623
2016
rs267607488
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700
GeneticVariation
UNIPROT
αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.
28470624
2017