|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
|
16376610 |
2006 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.
|
23815709 |
2013 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
|
10905661 |
2000 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations of the desmin gene have been reported to cause familial or sporadic forms of human skeletal, as well as cardiac, myopathy, termed desmin-related myopathy (DRM).
|
16217025 |
2005 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Desmin ( DES) mutations have been recognized as a cause of desmin-related myopathy (OMIM 601419), or desminopathy, a disease characterized by progressive limb muscle weakness and accumulation of desmin-reactive granular aggregates in the myofibers.
|
14648196 |
2004 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the intermediate filament (IF) protein desmin (DES), a major cytoskeletal component of myocytes, lead to severe forms of "desminopathy," which affects cardiac, skeletal, and smooth muscle.
|
17221859 |
2007 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.
|
11061256 |
2000 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe and comprehensively characterize two DES mutations found in Polish patients with a clinical diagnosis of desminopathy.
|
25541946 |
2014 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Desmin Mutation in the C-Terminal Domain Impairs Traction Force Generation in Myoblasts.
|
26789769 |
2016 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first time that a mutation affecting this domain in the desmin molecule is described in a desminopathy.
|
20133133 |
2010 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
|
22403400 |
2012 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
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 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.
|
23687351 |
2013 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
|
12766977 |
2003 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Desmin splice variants causing cardiac and skeletal myopathy.
|
11073539 |
2000 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
|
18061454 |
2008 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy.
|
23425003 |
2013 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the intermediate filament (IF) protein desmin (DES), a major cytoskeletal component of myocytes, lead to severe forms of "desminopathy," which affects cardiac, skeletal, and smooth muscle.
|
17221859 |
2007 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.
|
20448486 |
2010 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.
|
28470624 |
2017 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
|
12620971 |
2003 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Desminopathies in muscle disease.
|
15495235 |
2004 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
|
15800015 |
2005 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel desmin R355P mutation causes cardiac and skeletal myopathy.
|
16009553 |
2005 |