Results 31 to 40 of about 54,841 (223)

Genotype–Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry

Journal of Personalized Medicine, 2020
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder generally caused by out-of-frame mutations in the DMD gene. In contrast, in-frame mutations usually give rise to the milder Becker muscular dystrophy (BMD).
K. Lim, Q. Nguyen, T. Yokota
semanticscholar   +1 more source

Psychosis in a Patient with Muscular Dystrophy : Case Report and Literature Review

European Psychiatry, 2023
Introduction Knowledge about muscular dystrophies and in particular X-linked inherited disorders such as Duchenne and Becker Muscular Dystrophy has been gradually acquired as more research studies have been conducted to better understand the ...
O. Ali, H. Raai
doaj   +1 more source

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy

Human Genetics, 2020
Duchenne muscular dystrophy (DMD) is caused by a nonsense or frameshift mutation in the DMD gene, while its milder form, Becker muscular dystrophy (BMD) is caused by an in-frame deletion/duplication or a missense mutation.
M. Okubo, S. Noguchi, S. Hayashi, Harumasa Nakamura, H. Komaki, M. Matsuo, I. Nishino   +6 more
semanticscholar   +1 more source

Cardiac Magnetic Resonance Depiction of Different Morphological Appearances of Becker Cardiomyopathy in Siblings

Journal of the Indian Academy of Echocardiography & Cardiovascular Imaging, 2021
Becker muscular dystrophy (BMD) is an X-linked recessive disorder involving mutation of the dystrophin gene. Cardiac involvement in BMD is frequent and represents the foremost cause of mortality.
Pudhiavan Arunachalam, Richa Kothari, Saravanan Palaniappan, Vimal Raj   +3 more
doaj   +1 more source

TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy

Cell Reports, 2015
The amount and distribution of dystrophin protein in myofibers and muscle is highly variable in Becker muscular dystrophy and in exon-skipping trials for Duchenne muscular dystrophy. Here, we investigate a molecular basis for this variability.
Alyson A. Fiorillo, Christopher R. Heier, James S. Novak, Christopher B. Tully, Kristy J. Brown, Kitipong Uaesoontrachoon, Maria C. Vila, Peter P. Ngheim, Luca Bello, Joe N. Kornegay, Corrado Angelini, Terence A. Partridge, Kanneboyina Nagaraju, Eric P. Hoffman   +13 more
doaj   +1 more source

The prevalence of hereditary neuromuscular disorders in Northern Norway

Brain and Behavior, 2021
Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller, Marijke Van Ghelue, Irene Lund, Christoffer Jonsrud, Kjell Arne Arntzen   +4 more
doaj   +1 more source

Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene

Molecular Therapy: Nucleic Acids, 2012
Protein-truncating mutations in the dystrophin gene lead to the progressive muscle wasting disorder Duchenne muscular dystrophy, whereas in-frame deletions typically manifest as the milder allelic condition, Becker muscular dystrophy.
Sue Fletcher, Carl F. Adkin, Penny Meloni, Brenda Wong, Francesco Muntoni, Ryszard Kole, Clayton Fragall, Kane Greer, Russell Johnsen, Steve D. Wilton   +9 more
doaj   +1 more source

Subclinical cardiomyopathy in Becker muscular dystrophy [PDF]

Heart, 1992
To investigate the prevalence, age distribution, and spectrum of cardiac involvement in a cohort of patients with Becker muscular dystrophy.A prospective non-invasive study with clinical, electrocardiographic, and echocardiographic assessment.19 patients (age range 16-41 years) with Becker muscular dystrophy attending the Muscle Clinic at Hammersmith ...
S E, Steare, V, Dubowitz, A, Benatar
openaire   +2 more sources

Advances in Genetic Characterization and Genotype–Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era

Journal of Personalized Medicine, 2020
Currently, Duchenne muscular dystrophy (DMD) and the related condition Becker muscular dystrophy (BMD) can be usually diagnosed using physical examination and genetic testing.
O. Sheikh, T. Yokota
semanticscholar   +1 more source

Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.

PLoS ONE, 2016
Duchenne muscular dystrophy is a severe and currently incurable progressive neuromuscular condition, caused by mutations in the DMD gene that result in the inability to produce dystrophin. Lack of dystrophin leads to loss of muscle fibres and a reduction
Narinder Janghra, Jennifer E Morgan, Caroline A Sewry, Francis X Wilson, Kay E Davies, Francesco Muntoni, Jonathon Tinsley   +6 more
doaj   +1 more source