Diagnosis and management of Becker muscular dystrophy: the French guidelines

A Magot, K Wahbi, F Leturcq, S Jaffre, Y Péréon… - Journal of …, 2023 - Springer
Becker muscular dystrophy (BMD) is one of the most frequent among neuromuscular
diseases, affecting approximately 1 in 18,000 male births. It is linked to a genetic mutation …

Givinostat for Becker muscular dystrophy: a randomized, placebo-controlled, double-blind study

GP Comi, EH Niks, K Vandenborne… - Frontiers in …, 2023 - frontiersin.org
Objective No treatments are approved for Becker muscular dystrophy (BMD). This study
investigated the efficacy and safety of givinostat, a histone deacetylase pan-inhibitor, in …

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

CR Heier, NM McCormack, CB Tully… - Journal of Cachexia …, 2023 - Wiley Online Library
Background Becker muscular dystrophy (BMD) is a genetic neuromuscular disease of
growing importance caused by in‐frame, partial loss‐of‐function mutations in the dystrophin …

In-frame deletion of dystrophin exons 8–50 results in DMD phenotype

TV Egorova, II Galkin, OA Velyaev… - International Journal of …, 2023 - mdpi.com
Mutations that prevent the production of proteins in the DMD gene cause Duchenne
muscular dystrophy. Most frequently, these are deletions leading to reading-frame shift. The …

Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene

S Zanotti, M Ripolone, L Napoli, D Velardo, S Salani… - Cells, 2023 - mdpi.com
Phospholamban is involved in the regulation of the activity and storage of calcium in cardiac
muscle. Several mutations have been identified in the PLN gene causing cardiac disease …

Diffusion‐tensor magnetic resonance imaging captures increased skeletal muscle fibre diameters in Becker muscular dystrophy

D Cameron, T Abbassi‐Daloii… - Journal of cachexia …, 2023 - Wiley Online Library
Background Becker muscular dystrophy (BMD) is an X‐linked disorder characterized by
slow, progressive muscle damage and muscle weakness. Hallmarks include fibre‐size …

Artificial intelligence workflow quantifying muscle features on Hematoxylin–Eosin stained sections reveals dystrophic phenotype amelioration upon treatment

M Reinbigler, J Cosette, Z Guesmia, S Jimenez… - Scientific Reports, 2022 - nature.com
Cell segmentation is a key step for a wide variety of biological investigations, especially in
the context of muscle science. Currently, automated methods still struggle to perform skeletal …

The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls

F Magri, L Napoli, M Ripolone, P Ciscato… - International Journal of …, 2023 - mdpi.com
Limb girdle muscular dystrophies (LGMDs) are a group of genetically inherited
neuromuscular diseases with a very variable clinical presentation and overlapping traits …

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies

Z Xie, C Liu, H Yu, Z Xie, C Sun, Y Zhu, X Hu… - Orphanet Journal of …, 2024 - Springer
Background Pathogenic missense variants in the dystrophin (DMD) gene are rarely reported
in dystrophinopathies. Most DMD missense variants are of uncertain significance and their …

Findings from the longitudinal CINRG becker natural history study

PR Clemens, H Gordish-Dressman… - Journal of …, 2024 - content.iospress.com
Background: Becker muscular dystrophy is an X-linked, genetic disorder causing
progressive degeneration of skeletal and cardiac muscle, with a widely variable phenotype …