|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
We analyzed the dystrophin gene in 507 Korean DMD/BMD patients by multiple ligation-dependent probe amplification and direct sequencing.
|
27593222 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Disease progression in BMD patients appears to be dependent on the deletion itself and associated with a specific structure of dystrophin at the deletion site.
|
25348330 |
2015 |
|
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
Both myotube cultures from the two patients with Becker's dystrophy also expressed dystrophin, but all cultures from nine patients and two fetuses with Duchenne's dystrophy were dystrophin-deficient.
|
8361505 |
1993 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin gene mutations cause 2 common muscular dystrophies, Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).
|
16246949 |
2005 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the material of 227 families with Becker muscular dystrophy (BMD), we found nine non-consanguineous families with 17 male individuals carrying a rare mutation-a single exon 48 deletion of the dystrophin gene-who were affected with a very mild or subclinical form of BMD.
|
28247318 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
However, effect on clinical outcomes in DMD and BMD patients have been disappointing with minor effects on upper limb performance and none on ambulation.
|
30352768 |
2018 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The dystrophin gene was analyzed in 8 Duchenne muscular dystrophy (DMD) and 10 Becker muscular dystrophy (BMD) unrelated families (22 subjects: 18 index cases and 4 sibs) for the presence of deletions by multiplex polymerase chain reaction (mPCR; 27 exons) and Southern hybridization using 8 cDMD probes.
|
14571009 |
2003 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
In the present study, DNA samples from 121 unrelated DMD/BMD patients from North India were analyzed for deletional studies with multiplex PCR and Southern hybridization.
|
9048922 |
1997 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The results of our study (1) confirmed MLPA to be the method of choice for detecting DMD gene rearrangements in DMD/BMD patients, (2) showed that ambiguous MLPA amplification products should be verified by other methods, and (3) indicated that the MLPA method could be used in screening even for small mutations located in the probe-binding regions.
|
23224783 |
2013 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Cardiac dystrophin abnormalities in Becker muscular dystrophy assessed by endomyocardial biopsy.
|
7900621 |
1995 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this review is to report for the correlation between dystrophin structures in BMD deletions in view of this heterogeneity and to emphasize that examining BMD patients in details is highly relevant to anticipate for DMD therapy effects.
|
26295289 |
2015 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although the patient has a severe muscular clinical phenotype, consistent with Duchenne muscular dystrophy (DMD), the diagnosis of Becker muscular dystrophy (BMD) was proposed based on family history (brother with BMD) and confirmed by muscle immunohistochemistry, and molecular study shown an in-frame DMD gene mutation.
|
19875288 |
2010 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We report a patient with a large intragenic dystrophin deletion of exons 17-51 inclusive associated with congenital cataract and mild Becker muscular dystrophy.
|
9710043 |
1998 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
A 1583 bp transcript was found to be expressed in both DMD and BMD patients which was unrelated to the known dystrophin gene.
|
12577122 |
2002 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here we use a new monoclonal antibody directed against an peptide in the C-terminal end of the dystrophin molecule to show that the C-terminus is preserved in 30 BMD and 24 control skeletal muscles but not in 21 DMD specimens.
|
2033400 |
1991 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
We collected data from 1400 patients (1042 patients with confirmed unrelated Duchenne muscular dystrophy [DMD] or Becker muscular dystrophy [BMD]) registered in the Chinese Genetic Disease Registry from March 2012 to August 2017 and analyzed the genetic mutational characteristics of these patients.
|
29973226 |
2018 |
|
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 |
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 |
In this study, data from DMD/BMD patients who attended the Kuwait Medical Genetic Center during the last 20 years was retrieved from a Kuwait neuromuscular registry and analyzed.
|
29847600 |
2018 |
|
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 |
In addition, this patient carried a rare mutation of dystrophin gene that might be a new genetic predisposition to early-onset DCM in BMD.
|
24996370 |
2014 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Many known BMD deletions occur in dystrophin's central domain, generally considered to be a monotonous rod-shaped domain based on the knowledge of spectrin family proteins.
|
29535188 |
2018 |