Results 21 to 30 of about 6,773 (176)

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

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

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

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

Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.

Stem Cell Research, 2020
Becker Muscular dystrophy (BMD) is an X-linked syndrome characterized by progressive muscle weakness. BMD is generally less severe than Duchenne Muscular Dystrophy.
Davide Rovina, Elisa Castiglioni, Francesco Niro, Andrea Farini, Marzia Belicchi, Elisabetta Di Fede, Cristina Gervasini, Stefania Paganini, Marina Di Segni, Yvan Torrente, Rosaria Santoro, Giulio Pompilio, Aoife Gowran   +12 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

Health Care Use of Cardiac Specialty Care in Children With Muscular Dystrophy in the United States

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Duchenne and Becker muscular dystrophy are progressive disorders associated with cardiac mortality. Guidelines recommend routine surveillance; we assess cardiac resource use and identify gaps in care delivery. Methods and Results Male patients,
Erika J. Mejia, Kimberly Y. Lin, Oluwatimilehin Okunowo, Katherine A. Iacobellis, Susan E. Matesanz, John F. Brandsema, Carol A. Wittlieb‐Weber, Hannah Katcoff, Heather Griffis, Jonathan B. Edelson   +9 more
doaj   +1 more source

Morpholino Oligomer-Induced Dystrophin Isoforms to Map the Functional Domains in the Dystrophin Protein

Molecular Therapy: Nucleic Acids, 2020
Dystrophin plays a crucial role in maintaining sarcolemma stability during muscle contractions, and mutations that prevent the expression of a functional protein cause Duchenne muscular dystrophy (DMD).
Dunhui Li, Abbie M. Adams, Russell D. Johnsen, Susan Fletcher, Steve D. Wilton   +4 more
doaj   +1 more source