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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Ann Neurol
January 2025
School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.
Unlabelled: Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders.
Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum.
Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families.
Prophylactic Use of Cardiac Medications and Survival in Duchenne Muscular Dystrophy.
Muscle Nerve
January 2025
Stead Family Department of Pediatrics, Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA.
Introduction/aims: Prophylactic treatment of left ventricular dysfunction (LVD) in Duchenne muscular dystrophy (DMD) delays onset of LVD, but there is limited data showing impact on survival. Our aim was to describe survival among treated and untreated individuals with DMD.
Methods: Retrospective, population-based surveillance data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) were used.
CRISPR-Cas9 in Cardiovascular Medicine: Unlocking New Potential for Treatment.
Cells
January 2025
Department of Histology and Embryology and Vascular Biology Student Research Club, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, 85-092 Bydgoszcz, Poland.
Cardiovascular diseases (CVDs) remain a significant global health challenge, with many current treatments addressing symptoms rather than the genetic roots of these conditions. The advent of CRISPR-Cas9 technology has revolutionized genome editing, offering a transformative approach to targeting disease-causing mutations directly. This article examines the potential of CRISPR-Cas9 in the treatment of various CVDs, including atherosclerosis, arrhythmias, cardiomyopathies, hypertension, and Duchenne muscular dystrophy (DMD).
View Article and Find Full Text PDFTargeting EP2 Receptor Improves Muscle and Bone Health in Dystrophin/Utrophin Double-Knockout Mice.
Cells
January 2025
Linda and Mitch Hart Center for Regenerative and Personalized Medicine, Steadman Philippon Research Institute, Vail, CO 81657, USA.
Duchenne muscular dystrophy (DMD) is a severe genetic muscle disease occurring due to mutations of the dystrophin gene. There is no cure for DMD. Using a dystrophinutrophin (DKO-Hom) mouse model, we investigated the PGE2/EP2 pathway in the pathogenesis of dystrophic muscle and its potential as a therapeutic target.
View Article and Find Full Text PDFI. IDC Key-note Lecture: Influence of gut microbiome in Duchenne muscular dystrophy.
J Stem Cells Regen Med
December 2024
Institute of Biomolecular Chemistry (ICB), National Research Council (CNR), Naples (IT).
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