Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis
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DOI: 10.1002/pd.5369
Abstract: The Duchenne/Becker muscular dystrophy (DMD) carrier screening includes the evaluation of mutations in DMD gene, and the most widely used analysis is the multiplex ligation‐dependent probe amplification (MLPA) for the DMD deletions/duplications detection. The high… read more here.
Keywords: muscular dystrophy; becker muscular; duchenne becker;
Reação atípica à anestesia em distrofia muscular de Duchenne/Becker
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DOI: 10.1016/j.bjan.2017.04.015
Abstract: Resumo Justificativa/objetivos Distrofia muscular de Duchenne/Becker afeta a musculatura esqueletica e leva a fraqueza muscular progressiva e risco de reacoes atipicas anestesicas apos exposicao a succinilcolina ou halogenados. O objetivo do presente relato e descrever… read more here.
Keywords: distrofia muscular; becker; muscular duchenne; duchenne becker ... See more keywords
Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy
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DOI: 10.1016/j.bjane.2017.06.001
Abstract: Abstract Background and objectives Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is… read more here.
Keywords: becker muscular; duchenne becker; muscular dystrophy; dystrophy ... See more keywords
COVID-19 in advanced Duchenne/Becker muscular dystrophy patients
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DOI: 10.1016/j.nmd.2021.03.011
Abstract: Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy. As a result of progressive muscle weakness, pulmonary function decreases during the second decade of life and lung disease contributes significantly to morbidity and… read more here.
Keywords: muscular dystrophy; dystrophy; becker muscular; duchenne becker ... See more keywords
DUCHENNE AND BECKER MUSCULAR DYSTROPHY CARRIERS: EVIDENCE OF CARDIOMYOPATHY BY EXERCISE AND CARDIAC MAGNETIC RESONANCE IMAGING
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DOI: 10.1016/s0735-1097(19)32061-3
Abstract: Lack of defined parameters and varied detection methods have resulted in a broad range of predictions on the prevalence of cardiac disease in carriers of Duchenne and Becker muscular dystrophy (DMD and BMD). Prior studies… read more here.
Keywords: muscular dystrophy; duchenne becker; dystrophy carriers; becker muscular ... See more keywords
P3330Cardiac magnetic resonance including T1 mapping in patients with Duchenne and Becker muscular dystrophy
Sign Up to like & getrecommendations! Published in 2017 at "European Heart Journal"
DOI: 10.1093/eurheartj/ehx504.p3330
Abstract: Background and purpose: Cardiac involvement leading to progressive heart failure is a major cause of death in Duchenne and Becker muscular dystrophy (DMD/BMD) patients. T1 mapping and extracellular volume fraction (ECV) calculation are unique techniques… read more here.
Keywords: dmd bmd; duchenne becker; becker muscular; muscular dystrophy ... See more keywords
Uncertainty, hope, and coping efficacy among mothers of children with Duchenne/Becker muscular dystrophy
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DOI: 10.1111/cge.13528
Abstract: Uncertainty is a challenging aspect of caring for children with Duchenne/Becker muscular dystrophies (DBMD). Although uncertainty is often perceived as a state to be avoided, hope may influence caregivers' perceptions of uncertainty as opportunity. The… read more here.
Keywords: uncertainty; duchenne becker; children duchenne; coping efficacy ... See more keywords
Role Attainment in Emerging Adulthood: Subjective Evaluation by Male Adolescents and Adults with Duchenne and Becker Muscular Dystrophy1.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-210709
Abstract: BACKGROUND Youth with Duchenne and Becker muscular dystrophy (DBMD) experience challenges in attaining adult roles, which may impact quality of life. New interventions and treatments may facilitate adult role attainment through improved function. Historical data… read more here.
Keywords: becker muscular; adult; role attainment; duchenne becker ... See more keywords
[Genetic analysis and prenatal diagnosis of Duchenne or Becker muscular dystrophy].
Sign Up to like & getrecommendations! Published in 2019 at "Zhonghua fu chan ke za zhi"
DOI: 10.3760/cma.j.issn.0529-567x.2019.04.003
Abstract: Objective: To explore the mutation characteristics of DMD gene in patients with Duchenne or Becker muscular dystrophy and female carriers, to provide effective prenatal diagnosis. Methods: Samples were collected from 94 male patients clinically diagnosed… read more here.
Keywords: gene; muscular dystrophy; becker muscular; duchenne becker ... See more keywords