|
Myopathy
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
Myopathy
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|
|
Myopathy
|
0.200 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Histological examination of skeletal muscle revealed myopathic changes and immunostaining with anti-dystrophin antiserum demonstrated a mosaic pattern which are compatible with the observations in carriers of DMD.
|
1370218 |
1992 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
To investigate dystrophin abnormalities as a cause of myopathy in girls and women, we used dystrophin immunocytochemistry to study muscle biopsies from 505 girls and women with neuromuscular disease.
|
1579251 |
1992 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype.
|
1714059 |
1991 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Recently identified dystrophin-related myopathies affecting animals can serve as experimental models for human disease.
|
2178617 |
1990 |
|
Myopathy
|
0.200 |
AlteredExpression
|
group |
BEFREE |
The McLeod locus is adjacent to Duchenne muscular dystrophy (DMD) and dystrophin immunocytochemistry showed that expression is normal in muscle from the two McLeod cases in spite of the mild DMD-like myopathy.
|
2193159 |
1990 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This X-linked recessive myopathy has been localized to Xp21, as has the Duchenne muscular dystrophy gene locus, which codes for dystrophin.
|
2260862 |
1990 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Given the observed clinical variability of Becker dystrophy, it appears that dystrophin analysis is required for accurately distinguishing between Becker dystrophy and clinically similar autosomal recessive myopathies.
|
2668783 |
1989 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Other patients with deletions in this region may have truncated dystrophin without clinical signs of progressive muscle disease.
|
2677830 |
1989 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
|
2840818 |
1988 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy.
|
7747013 |
1995 |
|
Myopathy
|
0.200 |
AlteredExpression
|
group |
BEFREE |
The complexity of the relation between dystrophin mutations and the cell-specific loss of dystrophin expression can result in patients having cardiomyopathy and no myopathy.
|
7787263 |
1995 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Comparison of basic fibroblast growth factor in X-linked dystrophin-deficient myopathies of human, dog and mouse.
|
8217214 |
1993 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
His unique clinical features, as well as myopathy, are reported, although further study is necessary to clarify the relationship between the anomalous conditions and dystrophin abnormalities.
|
8352860 |
1993 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Our data on a small number of women with symptoms of muscle disease indicate that abnormal patterns of dystrophin labelling on sections may be an effective way of differentiating between female patients with a form of limb girdle dystrophy and those carrying a defective Xp21 gene.
|
8411069 |
1993 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A case of myopathy associated with a dystrophin gene deletion and abnormal glycogen storage.
|
8423832 |
1993 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The dystrophinopathies are muscle disorders due to an abnormality of an Xp21-linked gene which produces the dystrophin protein.
|
8452597 |
1993 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
All dystrophin-associated proteins are decreased in abundance in the cardiomyopathic hamster heart, perhaps explaining why the cardiomyopathy is more severe than the myopathy.
|
8505286 |
1993 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Duchenne/Becker muscular dystrophy (DMD/BMD) is a severe X-linked myopathy.
|
8737397 |
1996 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle disorder which is caused by a defect of dystrophin, a 427-kDa muscle cell membrane protein.
|
8789805 |
1996 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
A muscle biopsy revealed lamellar inclusion bodies in vascular endothelial cells in addition to myopathic changes with negative dystrophin staining.
|
8832134 |
1996 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Antibody against alpha-sarcoglycan was used to stain muscle-biopsy specimens from 556 patients with myopathy and normal dystrophin genes (the gene frequently deleted in X-linked muscular dystrophy).
|
9032047 |
1997 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
However, a number of distinct subtypes of FDC were identified: 1) autosomal dominant, the most frequent form (56%); 2) autosomal recessive (16%), characterized by worse prognosis; 3) X-linked FDC (10%), with different mutations of the dystrophin gene; 4) a novel form of autosomal dominant DCM with subclinical skeletal muscle disease (7.7%); 5) FDC with conduction defects (2.6%), and 6) rare unclassifiable forms (7.7%).
|
10400009 |
1999 |