|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
|
11668632 |
2001 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.
|
20448486 |
2010 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
|
10905661 |
2000 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
|
23349452 |
2013 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene.
|
18653338 |
2008 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
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 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.
|
22106715 |
2011 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D.
|
22215463 |
2012 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.
|
17418574 |
2007 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.
|
22484823 |
2013 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.
|
21262226 |
2011 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy.
|
23425003 |
2013 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
"Mutations in desmin's carboxy-terminal ""tail"" domain severely modify filament and network mechanics."
|
20171226 |
2010 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
|
22403400 |
2012 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Desmin myopathy.
|
14724127 |
2004 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Desmin splice variants causing cardiac and skeletal myopathy.
|
11073539 |
2000 |