Articles with "becker muscular" as a keyword



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The X‐linked Becker muscular dystrophy (bmx) mouse models Becker muscular dystrophy via deletion of murine dystrophin exons 45–47

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Published in 2023 at "Journal of Cachexia, Sarcopenia and Muscle"

DOI: 10.1002/jcsm.13171

Abstract: Becker muscular dystrophy (BMD) is a genetic neuromuscular disease of growing importance caused by in‐frame, partial loss‐of‐function mutations in the dystrophin (DMD) gene. BMD presents with reduced severity compared with Duchenne muscular dystrophy (DMD), the… read more here.

Keywords: bmd; dystrophy; becker muscular; mouse ... See more keywords
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Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis

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Published in 2018 at "Prenatal Diagnosis"

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;
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Becker muscular dystrophy: case report, review of the literature, and analysis of differentially expressed hub genes

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Published in 2021 at "Neurological Sciences"

DOI: 10.1007/s10072-021-05499-2

Abstract: Becker muscular dystrophy (BMD) is a genetic and progressive neuromuscular disease caused by mutations in the dystrophin gene with no available cure. A case report and comprehensive review of BMD cases aim to provide important… read more here.

Keywords: becker muscular; muscular dystrophy; dystrophy; review ... See more keywords
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A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene

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Published in 2017 at "Journal of Applied Genetics"

DOI: 10.1007/s13353-017-0391-8

Abstract: 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… read more here.

Keywords: exon deletion; muscular dystrophy; becker muscular; single exon ... See more keywords
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Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy

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Published in 2017 at "Revista Brasileira De Anestesiologia"

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
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Social involvement issues in patients with Becker muscular dystrophy: A questionnaire survey of subjects from a patient registry

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Published in 2018 at "Brain and Development"

DOI: 10.1016/j.braindev.2017.11.004

Abstract: BACKGROUND Little is known about the relationship between Becker Muscular Dystrophy (BMD) and developmental problems, school life, employment, and mental problems. We aimed to clarify whether BMD is a risk factor for developmental disorders, problematic… read more here.

Keywords: becker muscular; psychiatric disorders; muscular dystrophy; dystrophy ... See more keywords
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COVID-19 in advanced Duchenne/Becker muscular dystrophy patients

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Published in 2021 at "Neuromuscular Disorders"

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
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DUCHENNE AND BECKER MUSCULAR DYSTROPHY CARRIERS: EVIDENCE OF CARDIOMYOPATHY BY EXERCISE AND CARDIAC MAGNETIC RESONANCE IMAGING

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Published in 2019 at "Journal of the American College of Cardiology"

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
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P3330Cardiac magnetic resonance including T1 mapping in patients with Duchenne and Becker muscular dystrophy

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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
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MicroRNAs as serum biomarkers in Becker muscular dystrophy

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Published in 2022 at "Journal of Cellular and Molecular Medicine"

DOI: 10.1111/jcmm.17462

Abstract: Becker muscular dystrophy (BMD) is an X‐linked neuromuscular disorder due to mutation in the DMD gene, encoding dystrophin. Despite a wide clinical variability, BMD is characterized by progressive muscle degeneration and proximal muscle weakness. Interestingly,… read more here.

Keywords: bmd; muscle; becker muscular; muscular dystrophy ... See more keywords
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Non-compaction cardiomyopathy, Becker muscular dystrophy, neuropathy and recurrent syncope

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Published in 2021 at "BMJ Case Reports"

DOI: 10.1136/bcr-2021-244745

Abstract: We present the case of a 50-year-old man presenting with new heart failure symptoms. He had no evidence of any ischaemic cardiomyopathy, however, further cardiac imaging showed a left ventricular non-compaction cardiomyopathy. He was noted… read more here.

Keywords: cardiomyopathy; becker muscular; muscular dystrophy; compaction cardiomyopathy ... See more keywords