|
Becker Muscular Dystrophy
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The cDNA construct which is based on a very mild BMD phenotype thus encodes a highly functional dystrophin molecule whose reduced size renders it an attractive candidate for development as a therapeutic gene transfer reagent.
|
1301134 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Co-amplification of 11 exons from genomic DNA of Duchenne and Becker muscular dystrophy (DMD/BMD) patients with no deletion or duplication was performed and the samples subjected to multiple SSCP analysis.
|
1307253 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The distribution of the recombination events in the gene of healthy individuals was very similar to that of deletion breakpoints in DMD/BMD patients, suggesting that the two phenomenon may share a common mechanism.
|
1363782 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have developed a fast and accurate PCR-based linkage and carrier detection protocol for families of Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) patients with or without detectable deletions of the dystrophin gene, using fluorescent PCR products analyzed on an automated sequencer.
|
1415217 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A total of 161 unrelated Duchenne (DMD) and Becker muscular dystrophy (BMD) patients were screened for deletions in the brain promoter region of the dystrophin gene.
|
1422198 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
A total of 56 Duchenne muscular dystrophy (DMD) patients and 11 Becker muscular dystrophy (BMD) patients was analyzed by extended "multiplex" amplification of the DMD/BMD gene; deletions were found in 60% of these patients.
|
1427789 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Muscle biopsy demonstrated Becker type muscular dystrophy with dystrophin of low molecular weight.
|
1431989 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Previous studies have detected what appears to be a unique dystrophin degradation product that appears only in muscle biopsies from patients with Becker muscular dystrophy.
|
1488990 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin in frameshift deletion patients with Becker muscular dystrophy.
|
1496988 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We speculate that the developmental delay in the expression of dystrophin is a characteristic finding in regenerating fibers from asymptomatic and young BMD patients, such as the siblings in this report.
|
1506856 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neither extended multiplex PCR performed on DNA from the proband nor analysis of lymphocyte derived mRNA showed a structural alteration in the dystrophin gene suggesting that an unusual mutation was responsible for BMD in this family.
|
1518025 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This result emphasizes the value of dystrophin analysis for carrier detection and genetic counselling of families with Becker muscular dystrophy.
|
1525558 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mother of a BMD son and a BMD carrier daughter, both carrying a deletion of dystrophin cDNA 7 (0.5 kb Hind III fragment) and cDNA 8, was herself clinically healthy and had normal creatine kinase levels.
|
1537352 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
On blot, two of the antibodies detected a protein of Mr 400K in muscle extracts from all patients, including a BMD patient with a deletion which spanned more than 40% of the central rod domain of the Xp21 encoded dystrophin.
|
1564523 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.
|
1613762 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
31P-NMR spectroscopy of skeletal muscle in Becker dystrophy and DMD/BMD carriers. Altered rate of phosphate transport.
|
1634901 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Dystrophin was analysed by mixing in increasing proportions (from 0% to 100%) aliquots of solubilised muscle from BMD patients with a qualitatively abnormal dystrophin and a normal male control.
|
1640426 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
In our investigation of Duchenne muscular dystrophy (DMD)-Becker muscular dystrophy (BMD) gene in the Chinese, the analysis of relevant restriction fragment length polymorphisms (RFLPs) was first made in 30 normal female volunteers to determine their allele and genotype frequencies, and then in 29 DMD-BMD families for informativeness of different combinations of RFLPs in making carrier detection and prenatal diagnosis.
|
1676564 |
1991 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Dystrophin immunohistochemistry in a symptomatic carrier of Becker muscular dystrophy.
|
1683669 |
1991 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Myotubes from a Becker muscular dystrophy patient's biopsy produced a lower molecular weight (approximately 408 kd) dystrophin, which was the same size in a whole muscle preparation from the same biopsy.
|
1701042 |
1990 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy.
|
1757094 |
1991 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe here a BMD patient who belongs to a small class of subjects with large in frame deletions of the dystrophin gene that remove apparently dispensable coding sequence, thereby producing functional truncated dystrophin.
|
1757963 |
1991 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
All young DMD possible carriers and 11 of 24 adult DMB/BMD heterozygotes had increased serum enzymes activities.
|
1822792 |
1991 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene.
|
1864612 |
1991 |