DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
0.800 Biomarker disease BEFREE BMD (DXA) was measured at spine (LS), total hip (TH) and femoral neck (FN). 30355512 2019
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
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
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
0.800 Biomarker disease BEFREE FRAX scores without BMD (FRAX-BMI) were calculated at time of inclusion. 29356845 2018