|
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 |
CausalMutation
|
disease |
CLINVAR |
A dysfunctional desmin mutation in a patient with severe generalized myopathy.
|
9736733 |
1998 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.
|
20448486 |
2010 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Desmin in muscle and associated diseases: beyond the structural function.
|
25358400 |
2015 |
|
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 |
Biomarker
|
disease |
BEFREE |
N-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathy.
|
24098483 |
2013 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.
|
20423733 |
2010 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
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 |
UNIPROT |
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.
|
11061256 |
2000 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
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 |
Biomarker
|
disease |
CLINGEN |
We report the first point mutation in desmin cosegregating with an autosomal dominant form of desmin-related myopathy.
|
10545598 |
1999 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
|
22153487 |
2012 |
|
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 |
CausalMutation
|
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 |
CausalMutation
|
disease |
CLINVAR |
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
|
27393313 |
2016 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
|
25394388 |
2015 |
|
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 |