|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Muscular Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Duchenne and the less severe Becker form of muscular dystrophy (DMD,BMD) result from genetic deficiency in the level and/or activity of the protein dystrophin.
|
1301134 |
1992 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Frequent recurrent mutations of the human dystrophin gene lead to Duchenne and Becker muscular dystrophies.
|
1301934 |
1992 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The central portion of the dystrophin gene locus is a preferential site for deletions causing progressive muscular dystrophy of the Duchenne type (DMD).
|
1322353 |
1992 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Clinical evidence is presented supporting the hypothesis that the metabolic abnormality in the dystrophin-defective muscular dystrophies (DMD and BMD) involves the ATP pathway.
|
1326712 |
1992 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
These cases demonstrate that autosomal dominant muscular dystrophy may present in childhood, and that dystrophin and molecular genetic analyses should be performed when considering the diagnosis of childhood muscular dystrophy, even in the presence of a classical phenotype.
|
1422199 |
1992 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Allele-specific molecular diagnosis of Duchenne and Becker muscular dystrophies (DMD and BMD) has been largely dependent upon muscle biopsy for dystrophin protein assay.
|
1476571 |
1993 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The rapid progress of research on the structure of the dystrophin gene has enormously increased our understanding of the molecular basis of Duchenne (DMD) and Becker (BMD) muscular dystrophy.
|
1549142 |
1992 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We studied 38 unrelated patients from southern France with Duchenne (DMD) or Becker (BMD) muscular dystrophy for intragenic deletions of the DMD/BMD gene.
|
1684565 |
1991 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
We studied dystrophin in three young girls with a sporadic myopathy of early onset, manifested by mild to severe limb weakness, calf hypertrophy, high serum creatine kinase, normal karyotype, and morphologic features in muscle consistent with muscular dystrophy.
|
1714059 |
1991 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results show that secondary changes in the expression of dystrophin can occur in the absence of an abnormality in the corresponding gene and that dystrophin cannot be used in isolation as a diagnostic marker for muscular dystrophy.
|
1822343 |
1991 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages.
|
1822792 |
1991 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
This study emphasizes the clinical overlap between limb-girdle muscular dystrophy and dystrophinopathies, and reinforces the necessity of dystrophin protein and gene studies for the accurate clinical diagnosis of isolated cases of muscular dystrophy.
|
1842672 |
1991 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A Japanese family with two types of muscular dystrophy: DNA analysis and the dystrophin test.
|
1875028 |
1991 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this brief review, we describe the clinical manifestations of Duchenne's muscular dystrophy (DMD) and other similar syndromes, outline the history of the dystrophin gene's identification and its relationship to these muscular dystrophies, and relate the importance of the gene's discovery to clinical neurology.We do not discuss treatment.
|
1897557 |
1991 |
|
Muscular Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In this study, we have taken advantage of this phenomenon, called illegitimate transcription, to analyze the muscle-type dystrophin mRNA in easily accessible cells such as lymphoid cells, fibroblasts, and peripheral blood cells from Duchenne and Becker muscular dystrophies with known internal gene deletion.
|
1918370 |
1991 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Dystrophin is the gene product of the Duchenne (DMD) and Becker (BMD) muscular dystrophy gene locus on the short arm of the X chromosome.
|
1944822 |
1991 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Antibodies against this recombinant protein detected a large protein that exactly co-migrates with dystrophin yet is detectable in patients suffering from Duchenne and Becker muscular dystrophies.
|
2170350 |
1990 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Immunologic detection of dystrophin in clinical muscle biopsies provides a direct biochemical test for both Duchenne and Becker muscular dystrophies.
|
2178617 |
1990 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin analysis in the differential diagnosis of autosomal recessive muscular dystrophy of childhood and Duchenne muscular dystrophy.
|
2206159 |
1990 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have characterized deletions of the dystrophin gene in patients suffering from relatively mild muscular dystrophy.
|
2240031 |
1990 |
|
Muscular Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies.
|
2261642 |
1990 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin.
|
2404210 |
1990 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a 220-kb insertion within the DMD/BMD gene that cosegregates with a somewhat atypical course of muscular dystrophy in a pedigree.
|
2568331 |
1989 |