rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
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
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.800
CausalMutation
CLINVAR
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
23349452
2013
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
16865695
2006
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
11668632
2001
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
25394388
2015
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.800
CausalMutation
CLINVAR
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
18061454
2008
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.
23687351
2013
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
20829228
2010
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.800
CausalMutation
CLINVAR
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
17720647
2007
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
10717012
2000
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
25313375
2014
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
14648196
2004
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.800
CausalMutation
CLINVAR
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D.
22215463
2012
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
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
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
22395865
2012
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
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
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.800
CausalMutation
CLINVAR
"Disease mutations in the ""head"" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties."
19763525
2009
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
A novel desmin R355P mutation causes cardiac and skeletal myopathy.
16009553
2005
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
9697706
1998
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts.
27733623
2016
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
Desminopathies in muscle disease.
15495235
2004
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.800
CausalMutation
CLINVAR
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
19879535
2009
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
10905661
2000
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.800
CausalMutation
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545
2016
rs62636495
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
14711882
2004