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 |
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 |
Biomarker
|
disease |
BEFREE |
The need for a reliable and accurate method to quantify dystrophin proteins in human skeletal muscle biopsies has become crucial in order to assess the efficacy of dystrophin replacement therapies in Duchenne muscular dystrophy as well as to gain insight into the relationship between dystrophin levels and disease severity in Becker's muscular dystrophy.
|
31502334 |
2020 |
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neurodevelopmental, behavioral, and emotional symptoms are prevalent in patients with BMD regardless of dystrophin gene mutation site.
|
31650559 |
2020 |
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 |
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
In many BMD patients and DMD patients that have been converted to BMD by gene therapy, sarcolemmal nNOS is missing due to the lack of dystrophin nNOS-binding domain.
|
31266455 |
2019 |
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The medical history, anthropometric data, lumbar and femoral BMD (DXA) [considering osteoporosis (OP): T-score ⩽-2.5], TBS (considering degraded microarchitecture: <1.230) and dorsolumbar X-ray [to assess vertebral fractures (VF)] were evaluated.
|
31628810 |
2019 |
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present three boys with DMD single nucleotide variants associated with Becker muscular dystrophy presenting with myalgia, reduced exercise capacity, neurodevelopmental symptoms and elevated creatine kinase.
|
31706698 |
2019 |
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Overall, these data support the concept that exercise training in the form of isometric tetanic contractions can improve contractile function of dystrophin-deficient muscle, indicating a potential role for enhancing muscle strength in patients with DMD and BMD.
|
30571283 |
2019 |
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dystrophin gene can be characterized by laboratory testing to confirm a clinical diagnosis of DMD/BMD.
|
30660698 |
2019 |
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
BMD (DXA) was measured at spine (LS), total hip (TH) and femoral neck (FN).
|
30355512 |
2019 |
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The exon skipping approach aims to restore the disrupted dystrophin reading frame, to allow the production of partially functional dystrophins, such as found in the less severe Becker muscular dystrophy.
|
30672725 |
2019 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
CTD_human |
Correction of diverse muscular dystrophy mutations in human engineered heart muscle by single-site genome editing.
|
29404407 |
2018 |
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
We applied this new acquisition-analysis method to quantify dystrophin and sarcolemma-related proteins using paediatric control muscles from cases without a neuromuscular disorder as well as DMD and BMD samples.
|
29579078 |
2018 |
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Covariates included either Fracture Risk Assessment Tool (FRAX) major osteoporotic fracture probability calculated with BMD (FRAX-BMD), or individual clinical risk factors (CRF) including age, total hip BMD, race, falls, and prevalent fracture after age 50 years.
|
29624722 |
2018 |
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
It employs antisense oligonucleotides (AONs) to restore the disrupted open reading frame, allowing the production of shorter, but partly functional dystrophin protein as seen in less severely affected Becker muscular dystrophy patients.
|
29103911 |
2018 |
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Cross-sectional comparison enabled to identify 10 proteins discriminating between healthy controls, DMD and BMD patients.
|
29682908 |
2018 |
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Previous reports show that in-frame deletion of exons 45-55 produces an internally shorted, but functional, dystrophin protein resulting in a very mild BMD phenotype.
|
30236982 |
2018 |
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This retrospective study examined nocturnal hypercapnia in six young Becker muscular dystrophy (BMD) patients with deletions of one or more exons of DMD gene.
|
29526517 |
2018 |
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genomic rearrangements, such as intragenic deletions and duplications, are the most prevalent types of mutation in the DMD gene, and DMD mutations underlie Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).
|
29273555 |
2018 |
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
FRAX scores without BMD (FRAX-BMI) were calculated at time of inclusion.
|
29356845 |
2018 |