|
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 |
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 |
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 |
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 |
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 |
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 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin deficiency leads to the severe muscle wasting disease Duchenne Muscular Dystrophy and the milder allelic variant, Becker Muscular Dystrophy (DMD and BMD).
|
31689503 |
2020 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The therapy's effectiveness was verified in a Japanese patient with a nonsense dystrophin mutation manifesting as Becker muscular dystrophy.
|
26094594 |
2016 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene.
|
15655674 |
2005 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked disorders that result from a mutation in the dystrophin gene that reduces the production or effectiveness of the protein dystrophin.
|
22052614 |
2011 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene.
|
22006698 |
2011 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by various mutations in the dystrophin gene.
|
17385798 |
2007 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Finally, a c.707T>G variant (p.Phe236Cys) in the DMD gene was identified in a patient retrospectively recognized to be affected by Becker muscular dystrophy (BMD, OMIM 300376).
|
28027854 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Eighty-six percent of BMD patients with dystrophin of altered size have deletions or duplications, and the observed sizes of dystrophin fit well with predictions based on DNA data.
|
2063877 |
1991 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The prediction of Duchenne muscular dystrophy (DMD) patients to have out-framed deletions and Becker's muscular dystrophy (BMD) patients to have in-frame deletions of dystrophin gene holds well in the vast majority of cases.
|
18974550 |
2009 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Discrimination between BMD patients with and without dystrophin gene deletion was not possible on the basis of UTC data: average cvIBS was 5.2 ± 1.2 and 5.5 ± 1.4 dB, and average cIBS was 29.9 ± 4.7 and 29.6 ± 5.8, respectively, significantly different (p < 0.001) only from controls (8.6 ± 0.5 and 24.6 ± 1.2 dB).
|
25308949 |
2014 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene.
|
31379145 |
2020 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, nonsense mutations in the DMD gene, encoding the dystrophin protein, have been associated with both the severe Duchenne Muscular Dystrophy (DMD) and milder Becker Muscular Dystrophy (BMD) phenotypes.
|
21972111 |
2011 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Becker muscular dystrophy (BMD) is a genetic neuromuscular disease characterized by an alteration of the dystrophin protein.
|
30590561 |
2019 |