rs57965306
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
C
0.820
CausalMutation
CLINVAR
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
17439987
2007
rs57965306
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.820
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
rs57965306
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
C
0.820
CausalMutation
CLINVAR
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.
20448486
2010
rs57965306
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
C
0.820
CausalMutation
CLINVAR
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
27393313
2016
rs57965306
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.820
GeneticVariation
BEFREE
We investigated newly generated immortalized heterozygous and homozygous R349P desmin knock-in myoblasts in conjunction with the corresponding desminopathy mice as models for desminopathies to analyse major protein quality control processes in response to the presence of R349P mutant desmin.
30179276
2019
rs57965306
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.820
GeneticVariation
BEFREE
The MyoRobot technology discloses a premature biomechanical decay of skeletal muscle fiber bundles derived from R349P desminopathy mice.
31341183
2019
rs57965306
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
C
0.820
CausalMutation
CLINVAR
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
25394388
2015
rs57965306
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
C
0.820
CausalMutation
CLINVAR
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
15800015
2005