|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To further elucidate the pathophysiology of missense dystrophin in vivo, we generated two transgenic mdx mouse lines expressing L54R or L172H mutant dystrophin, which correspond to missense mutations identified in human patients with DMD or BMD, respectively.
|
29194514 |
2018 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In-frame dystrophin mutations cause a clinically moderate disorder named Becker muscular dystrophy.
|
29984652 |
2018 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The reading frame can be restored by antisense oligonucleotide (AON)-mediated exon skipping, allowing production of internally deleted, but partially functional dystrophin proteins as found in the less severe Becker muscular dystrophy.
|
29466448 |
2018 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Exon skipping for Duchenne muscular dystrophy (DMD) works by modulating dystrophin pre-mRNA splicing, preventing incorporation of frame-disrupting exons into the final mRNA product while maintaining the open reading frame, to produce a shortened-yet-functional protein as seen in milder Becker muscular dystrophy (BMD) patients.
|
30171539 |
2018 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
DMD/BMD are X-linked recessive disorders, related to the synthesis of dystrophin.
|
29067654 |
2018 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Antisense oligonucleotide (AON)-mediated exon skipping has been developed as a method to restore the reading frame, which allows the synthesis of internally truncated, but partially functional dystrophin proteins, as found in the less severe Becker muscular dystrophy (BMD).
|
30171546 |
2018 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-linked recessive neuromuscular disorders caused by mutations in dystrophin gene.
|
29578119 |
2018 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55).
|
29414413 |
2018 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel dystrophin mutation (p.1667 del Ala), resulting in BMD-associated cardiomyopathy that demonstrated the pathological features of significant fibrofatty replacement in the sub-epicardial layer of the ventricle; further, the high-throughput sequencing is helpful for making an early diagnosis of BMD.
|
30103083 |
2018 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
|
28859693 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here, height of ambulant and steroid naive Japanese 179 DMD and 42 BMD patients between 4 and 10 years of age was retrospectively examined using height standard deviation score (SDS).
|
28734761 |
2017 |
|
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 |
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene.
|
28610567 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Compared to baseline, BMD significantly increased for S-WEIGHT in the arms (+4%, P<0.001), legs (+8%, P<0.01), pelvis (+6%, P<0.01) and lumbar spine (+4%, P<0.05), whereas BMD did not significantly change for S-CORE at any site.
|
26364686 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
This study aimed to investigate possible asymmetries and relationships between performance of dominant and non-dominant upper limbs (UL) in patients with Duchenne and Becker muscular dystrophies (DMD/BMD), to compare UL performance of patients and healthy subjects and to investigate the relationship between timed performance of UL and age, motor function and muscle strength in DMD/BMD patients.
|
28746422 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
This review highlights the pathology of DMD and BMD, discusses animal models of DMD and BMD, and describes dystrophin biomarker quantitation in DMD and BMD, with several image analysis approaches, including a new automated method that evaluates protein expression of individual muscle fibers.
|
28974147 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The objective of this study was to assess the absolute levels of miR-30c and miR-181a in sera of DMD and BMD patients using digital PCR (a robust technique for precise and direct quantification of small amounts of nucleic acids without standard curves and external references), and investigate the correlation between miR-30c and miR-181a expressions and several clinical parameters.
|
27979502 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Among them, exon-skipping therapy using antisense oligonucleotides is very promising, because it corrects the reading frame of the dystrophin-encoding gene and restores protein expression, resulting in the conversion of DMD to a clinically milder form, Becker muscular dystrophy (BMD).
|
28566768 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Becker muscular dystrophy (BMD) is a neuromuscular disorder allelic to Duchenne muscular dystrophy (DMD), caused by in-frame mutations in the dystrophin gene, and characterized by a clinical progression that is both milder and more heterogeneous than DMD.
|
29167533 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.
|
28972564 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Contrary to the Japanese observations of Lee et al. published in this journal, we did not find significant differences in the carrier frequency between mothers of DMD and BMD patients.
|
28680110 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dystrophin gene are responsible for both DMD and BMD.
|
28152980 |
2017 |