|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
|
11668632 |
2001 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
|
11668632 |
2001 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
BEFREE |
Western blot for myotubularin and desmin has been proposed as a useful diagnostic test for both X-linked myotubular myopathy and desmin-related myopathy, and in-vitro and mouse models for the latter have provided insights into its pathogenesis.
|
12351999 |
2002 |
|
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 |
CLINVAR |
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 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
|
14711882 |
2004 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Desmin myopathy.
|
14724127 |
2004 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Desmin myopathy.
|
14724127 |
2004 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Desmin myopathy.
|
14724127 |
2004 |
|
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 |
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 |
Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.
|
15050448 |
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 |
UNIPROT |
Desminopathies in muscle disease.
|
15495235 |
2004 |
|
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 |
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 |
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 desmin R355P mutation causes cardiac and skeletal myopathy.
|
16009553 |
2005 |
|
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 |
Biomarker
|
disease |
CLINGEN |
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 accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
|
16376610 |
2006 |