rs121913003
×
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
rs121913003
×
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
rs121913003
×
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
rs121913003
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.800
CausalMutation
CLINVAR
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
14991347
2004
rs121913003
×
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
rs121913003
×
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
rs121913003
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.800
CausalMutation
CLINVAR
Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.
21262226
2011
rs121913003
×
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
rs121913003
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.800
CausalMutation
CLINVAR
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
10717012
2000
rs121913003
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.800
CausalMutation
CLINVAR
Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.
15050448
2004
rs121913003
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
Desminopathies in muscle disease.
15495235
2004
rs121913003
×
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
rs121913003
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.800
CausalMutation
CLINVAR
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
22153487
2012
rs121913003
×
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
rs121913003
×
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
rs121913003
×
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
rs121913003
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
Nebulin binding impedes mutant desmin filament assembly.
23615443
2013
rs121913003
×
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
rs121913003
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.800
GeneticVariation
UNIPROT
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
12766977
2003
rs121913003
×
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
rs121913003
×
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
rs121913003
×
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
rs121913003
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.800
CausalMutation
CLINVAR
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
10905661
2000
rs121913003
×
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
rs121913003
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
T
0.800
GeneticVariation
CLINVAR
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
27854218
2016