Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/mus.21565 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Holter electrocardiography findings in Fukuyama congenital muscular dystrophy.
Neuromuscul Disord
January 2025
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan; Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Fukuyama congenital muscular dystrophy (FCMD) is the second most common childhood-onset muscular dystrophy in Japan. However, only a few comprehensive studies have investigated cardiac complications associated with FCMD, with none on arrhythmias. The present study evaluated 78 Holter electrocardiograms from 15 patients with FCMD.
View Article and Find Full Text PDFThe Unexplored Role of Connexin Hemichannels in Promoting Facioscapulohumeral Muscular Dystrophy Progression.
Int J Mol Sci
January 2025
Programa de Comunicación Celular en Cáncer, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7550000, Chile.
DUX4 is typically a repressed transcription factor, but its aberrant activation in Facioscapulohumeral Muscular Dystrophy (FSHD) leads to cell death by disrupting muscle homeostasis. This disruption affects crucial processes such as myogenesis, sarcolemma integrity, gene regulation, oxidative stress, immune response, and many other biological pathways. Notably, these disrupted processes have been associated, in other pathological contexts, with the presence of connexin (Cx) hemichannels-transmembrane structures that mediate communication between the intracellular and extracellular environments.
View Article and Find Full Text PDFIdentifying novel response markers for spinal muscular atrophy revealed by targeted proteomics following gene therapy.
Gene Ther
January 2025
Departments of Pediatrics and Neurology, Emory University, Atlanta, 30322, Georgia.
Spinal muscular atrophy (SMA) is a progressive disease that affects motor neurons, with symptoms usually starting in infancy or early childhood. Recent breakthroughs in treatments targeting SMA have improved both lifespan and quality of life for infants and children with the disease. Given the impact of these treatments, it is essential to develop methods for managing treatment-induced changes in disease characteristics.
View Article and Find Full Text PDFHeight development and multiple bone health indicators in children aged 2-12 years with Duchenne muscular dystrophy (DMD).
PLoS One
January 2025
Department of Pediatrics, China Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Introduction: Short stature is a frequent complication of DMD, and its pathomechanisms and influencing factors are specific to this disease and the idiosyncratic treatment for DMD.
Purpose: To establish the height growth curve of early DMD, and evaluate the potential influencing markers on height growth, provide further evidence for pathological mechanism, height growth management and bone health in DMD.
Methods: A retrospective, cross-sectional study of 348 participants with DMD aged 2-12 years was conducted at West China Second Hospital of Sichuan University from January 2023 to October 2023.
Astrocyte proliferation in the hippocampal dentate gyrus is suppressed across the lifespan of dystrophin-deficient mdx mice.
Exp Physiol
January 2025
Department of Physiology, School of Medicine, University College Cork, Cork, Ireland.
Absence of the structural protein, dystrophin, results in the neuromuscular disorder Duchenne Muscular Dystrophy (DMD). In addition to progressive skeletal muscle dysfunction, this multisystemic disorder can also result in cognitive deficits and behavioural changes that are likely to be consequences of dystrophin loss from central neurons and astrocytes. Dystrophin-deficient mdx mice exhibit decreases in grey matter volume in the hippocampus, the brain region that encodes and consolidates memories, and this is exacerbated with ageing.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!