|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Desmin at myotendinous junctions.
|
1544366 |
1992 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development.
|
2673923 |
1989 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
MGD |
Disruption of muscle architecture and myocardial degeneration in mice lacking desmin.
|
8794866 |
1996 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Involvement of the desmin gene (DES) has been excluded in three families diagnosed with desmin-related myopathy.
|
9697706 |
1998 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Involvement of the desmin gene (DES) has been excluded in three families diagnosed with desmin-related myopathy.
|
9697706 |
1998 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Involvement of the desmin gene (DES) has been excluded in three families diagnosed with desmin-related myopathy.
|
9697706 |
1998 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
BEFREE |
Muscle cell lines transfected with the mutant CRYAB cDNA showed intracellular aggregates that contain both desmin and alphaB-crystallin as observed in muscle fibers from DRM patients.
|
9731540 |
1998 |
|
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
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 |
GeneticVariation
|
disease |
BEFREE |
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 |
Biomarker
|
disease |
MGD |
The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function.
|
10591032 |
1999 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We examined 22 patients from 8 families with dominantly inherited myofibrillar or desmin-related myopathy and 2 patients with sporadic disease and analyzed the desmin gene for mutations, using complementary DNA (cDNA) amplified from muscle-biopsy specimens and genomic DNA extracted from blood lymphocytes.
|
10717012 |
2000 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We examined 22 patients from 8 families with dominantly inherited myofibrillar or desmin-related myopathy and 2 patients with sporadic disease and analyzed the desmin gene for mutations, using complementary DNA (cDNA) amplified from muscle-biopsy specimens and genomic DNA extracted from blood lymphocytes.
|
10717012 |
2000 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We examined 22 patients from 8 families with dominantly inherited myofibrillar or desmin-related myopathy and 2 patients with sporadic disease and analyzed the desmin gene for mutations, using complementary DNA (cDNA) amplified from muscle-biopsy specimens and genomic DNA extracted from blood lymphocytes.
|
10717012 |
2000 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We examined 22 patients from 8 families with dominantly inherited myofibrillar or desmin-related myopathy and 2 patients with sporadic disease and analyzed the desmin gene for mutations, using complementary DNA (cDNA) amplified from muscle-biopsy specimens and genomic DNA extracted from blood lymphocytes.
|
10717012 |
2000 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
We examined 22 patients from 8 families with dominantly inherited myofibrillar or desmin-related myopathy and 2 patients with sporadic disease and analyzed the desmin gene for mutations, using complementary DNA (cDNA) amplified from muscle-biopsy specimens and genomic DNA extracted from blood lymphocytes.
|
10717012 |
2000 |
|
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 |
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
|
10905661 |
2000 |
|
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 |
CLINVAR |
Desmin splice variants causing cardiac and skeletal myopathy.
|
11073539 |
2000 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Desmin splice variants causing cardiac and skeletal myopathy.
|
11073539 |
2000 |