|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
"Disease mutations in the ""head"" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties."
|
19763525 |
2009 |
|
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 |
Biomarker
|
disease |
CTD_human |
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.
|
30055862 |
2018 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Desminopathy is a familial or sporadic cardiac and skeletal muscular dystrophy associated with mutations in desmin.
|
14991347 |
2004 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
BEFREE |
Desminopathy is a neuromuscular disorder associated with the accumulation of the protein desmin.
|
15078418 |
2004 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Desmin-related myofibrillar myopathy (DRM) is a cardiac and skeletal muscle disease caused by mutations in the desmin (DES) gene.
|
17325244 |
2007 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Desminopathy is one of the most common intermediate filament human disorders associated with mutations in closely interacting proteins, desmin and alphaB-crystallin.
|
19181099 |
2008 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
CTD_human |
Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES).
|
20718792 |
2011 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES).
|
20718792 |
2011 |
|
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 |
BEFREE |
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 |
CausalMutation
|
disease |
CLINVAR |
A dysfunctional desmin mutation in a patient with severe generalized myopathy.
|
9736733 |
1998 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A dysfunctional desmin mutation in a patient with severe generalized myopathy.
|
9736733 |
1998 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation (R120G) in CryAB that is linked to human desmin-related myopathy (DRM), has proved in transgenic (TG) mice to be causative, likely through compromising the function of both CryAB and desmin filaments and inducing aberrant protein aggregation.
|
15572040 |
2004 |
|
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 |
Biomarker
|
disease |
CLINGEN |
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 |
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 |
A novel desmin R355P mutation causes cardiac and skeletal myopathy.
|
16009553 |
2005 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.
|
20696008 |
2011 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
|
14991347 |
2004 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Autophagic vacuolar pathology in desminopathies.
|
25557463 |
2015 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
|
22395865 |
2012 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
|
18061454 |
2008 |