|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.
|
28470624 |
2017 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts.
|
27733623 |
2016 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
|
25394388 |
2015 |
|
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 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nebulin binding impedes mutant desmin filament assembly.
|
23615443 |
2013 |
|
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 |
|
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 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
|
22403400 |
2012 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
|
20829228 |
2010 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
CLINVAR |
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
|
20829228 |
2010 |
|
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 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
|
16865695 |
2006 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel desmin R355P mutation causes cardiac and skeletal myopathy.
|
16009553 |
2005 |
|
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 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Desminopathies in muscle disease.
|
15495235 |
2004 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
|
14711882 |
2004 |
|
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 |
|
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 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
|
11668632 |
2001 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
|
10905661 |
2000 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
|
10717012 |
2000 |
|
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 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
|
9697706 |
1998 |