|
Becker Muscular Dystrophy
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A linkage study in 30 Becker muscular dystrophy (BMD) kindreds using three cloned DNA sequences from the X chromosome which demonstrate restriction fragment length polymorphisms (RFLPs), suggests that the BMD gene is located on the short arm of the X chromosome, in the p21 region.
|
6086495 |
1984 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
A cloned DNA segment, DXS164 (or pERT87), has been shown to detect deletions in the DNA of unrelated DMD and BMD males.
|
3773991 |
1986 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we describe the combined results of more than 20 research laboratories with respect to the occurrence of deletions at the DXS164 locus in DNA samples isolated from patients with DMD and Becker muscular dystrophy (BMD).
|
3014348 |
1986 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Serum pyruvate-kinase (PK) and creatine-kinase (CK) determinations have been carried out in a sample of 100 obligate carriers for the Duchenne muscular dystrophy (DMD) gene, 23 obligate carriers for the Becker muscular dystrophy (BMD) gene, and 50 normal adult control women.
|
3777019 |
1986 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This suggests that deletions in DXS164 occur approximately as frequently in BMD as they do in DMD.
|
3030926 |
1987 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Using a complementary DNA subclone of the DMD gene we have screened 66 DMD and BMD patients who had not previously shown deletions with the probes then available.
|
2821406 |
1987 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The occurrence of this deletion in DXS164 would appear to confirm that this region is part of the BMD locus.
|
3040577 |
1987 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.
|
2903663 |
1988 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fetal muscle cDNA clones covering at least 11.4 kb of the Duchenne muscular dystrophy (DMD) gene sequence were used to identify a deletion-prone region in DNA from DMD and Becker muscular dystrophy (BMD) patients.
|
3410474 |
1988 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
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 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The distribution and frequency of deletions spanning the entire locus suggests that many "in-frame" deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non-DMD/non-BMD clinical features.
|
2491009 |
1989 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study consisted of 1) molecular deletion analyses in patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) using the entire cDNA for the DMD gene as hybridization probes, 2) RFLP analyses in a large number of Japanese normal women using 11 DMD-linked cloned DNAs as probes, and 3) segregation analyses with these RFLP data in 17 DMD families in which prenatal or carrier diagnosis was required.
|
2576185 |
1989 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Since deletions were not detectable, an X-chromosomal segment, carrying DNA markers for the dystrophin gene and its flanking regions was reconstructed; this demonstrated Becker muscular dystrophy is the most probable primary cause of illness in these families.
|
2565867 |
1989 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
We know of no other case of a patient with a disease thought to be unrelated to Duchenne/Becker dystrophy yet demonstrating dystrophin deficiency.
|
2674948 |
1989 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thirty-three patients with BMD or LGD (thirty isolated and three with an affected brother) were screened with a panel of cDNA probes for the whole dystrophin gene.
|
2563842 |
1989 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The distribution of deletions across the gene region shows at least one region (detected by P20) prone to deletion mutations in both DMD and BMD patients.
|
2653672 |
1989 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
In the course of a systematic survey of DMD and BMD patients with intronic probes and with cDNA probes covering three-fourths of the coding sequence, 45 molecular deletions within the DMD gene were investigated.
|
2613240 |
1989 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
All 4 patients had clear abnormalities of dystrophin, and were diagnosed as having Becker muscular dystrophy by both immunofluorescence and immunoblot examinations; that is, dystrophin of an abnormal molecular mass was visualized in muscle cryosections as "patchy" or discontinuous immunostaining at the surface membrane of the muscle fibers.
|
2260849 |
1990 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Enormous dystrophin in a patient with Becker muscular dystrophy.
|
2158637 |
1990 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe two brothers with identical inherited deletions of one single exon within the middle of the DMD gene; one brother has Becker muscular dystrophy diagnosed at 11 years of age, whereas the older brother is normal at 18.
|
2404853 |
1990 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a deletion of the dystrophin gene in a family segregating for very mild BMD, one member of which was still ambulant at age 61 years, which removes a central part of the dystrophin gene encompassing 5,106 base pairs of coding sequence, almost half the coding information.
|
2404210 |
1990 |
|
Becker Muscular Dystrophy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Muscle dystrophin mRNAs from Duchenne (DMD) and Becker (BMD) patients with internal deletion of the DMD gene were quantitated and sequenced.
|
2261642 |
1990 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Molecular deletion screening with cDNA probes from the dystrophin gene was undertaken in patients with Becker muscular dystrophy from 58 separate families.
|
2325103 |
1990 |
|
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 |