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
Genetic profile of Brazilian patients with dystrophinopathies
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DOI: 10.1111/cge.12975
Abstract: Different types of mutations in the DMD gene underlie Duchenne muscular dystrophies (DMD) and Becker muscular dystrophies (BMD). Large deletions and duplications are the most frequent causative genetic alterations worldwide, but little is known about… read more here.
Keywords: dmd bmd; large deletions; genetic profile; profile ... See more keywords
Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging
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DOI: 10.1371/journal.pone.0250420
Abstract: Introduction Cognitive difficulties and neuropsychological alterations in Duchenne and Becker muscular dystrophy (DMD, BMD) boys are not yet sufficiently explored, although this topic could have a relevant impact, finding novel biomarkers of disease both at… read more here.
Keywords: dmd; pilot study; connectivity; executive ... See more keywords
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy
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DOI: 10.3390/genes14010214
Abstract: Dystrophinopathies are X-linked recessive muscle disorders caused by mutations in the dystrophin (DMD) gene that include deletions, duplications, and point mutations. Correct diagnosis is important for providing adequate patient care and family planning, especially at… read more here.
Keywords: single centre; point mutations; dmd bmd; gene ... See more keywords