Results 71 to 80 of about 19,247 (225)

Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies

Annals of Clinical and Translational Neurology
Objective Several neuromuscular disorders (NMDs) are characterized by progressive muscle damage and are marked by the elevation of circulating muscle proteins from activity‐related injury.
Mads G. Stemmerik, Benjamin Barthel, Nanna R. Andersen, Sofie V. Skriver, Alan J. Russell, John Vissing   +5 more
doaj   +1 more source

Cardiomyopathy in becker muscular dystrophy: Overview

World Journal of Cardiology, 2016
Becker muscular dystrophy (BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac involvement in BMD has been described and cardiomyopathy represents the number one cause of death in these patients. In this paper, the pathophysiology, clinical evaluations and management of cardiomyopathy in patients with BMD will be ...
Rady, Ho, My-Le, Nguyen, Paul, Mather
openaire   +2 more sources

Metabolic Complications and Ultrasound‐Detected Liver Abnormalities in Paediatric Patients With Duchenne Muscular Dystrophy

Pediatric Obesity, Volume 21, Issue 4, April 2026.
ABSTRACT Background Nutritional care in Duchenne muscular dystrophy (DMD), a progressive neuromuscular disorder, is particularly important due to the high risk of obesity in childhood and malnutrition in adolescence. Objectives The study aimed to evaluate metabolic complications in DMD, such as liver USS (ultrasound scan) abnormalities and abnormal ...
Karolina Śledzińska, Kornelia Polat, Agnieszka Kuchta, Józef Dulak, Agnieszka Łoboda, Urszula Florczyk‐Soluch, Józef Szczyrski, Joanna Bautembach, Jarosław Meyer‐Szary, Edyta Wernio, Anna Lemska, Ewa Pilarska, Maria Mazurkiewicz‐Bełdzińska, Ninela Irga‐Jaworska, Jolanta Wierzba   +14 more
wiley   +1 more source

Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report

Journal of Medical Case Reports
Introduction Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders affecting muscle function, which are caused by mutations in the dystrophin gene (also known as the Duchenne muscular dystrophy gene).
Sarah Gerges, Rania Naoufal, Hicham Mansour   +2 more
doaj   +1 more source

Myofibre Density Reveals a Critical Threshold Around Age 6 in Steroid‐Naïve Duchenne Muscular Dystrophy: A Retrospective Observational Study

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
We analysed archival muscle biopsies of steroid‐naïve patients with Duchenne muscular dystrophy (DMD), proposing a novel, simple metric: myofibre density (MFD). MFD sharply declines until age 6, identifying a critical threshold around this age. MFD provides a sensitive, reproducible biomarker for early disease progression, highlighting a potential ...
Tetsuhiro Yamakado, Yuka Ishikawa, Koki Ise, Lei Wang, Yoshitaka Oda, Masumi Tsuda, Taichi Kimura, Masayoshi Nagao, Manabu Ito, Shinya Tanaka, Zen‐ichi Tanei   +10 more
wiley   +1 more source

Muscular dystrophy meets protein biochemistry, the mother of invention [PDF]

, 2017
Muscular dystrophies result from a defect in the linkage between the muscle fiber cytoskeleton and the basement membrane (BM). Congenital muscular dystrophy type MDC1A is caused by mutations in laminin α2 that either reduce its expression or impair its ...
Jeffrey H. Miner, Meinen, Steven D. Funk, Yurchenco   +3 more
core   +2 more sources

Thorough QT Study on the Effect of Therapeutic and Supratherapeutic Dosing of Givinostat in Healthy Volunteers

Clinical Pharmacology in Drug Development, Volume 15, Issue 3, March 2026.
Abstract Givinostat is a class I/II histone deacetylase inhibitor indicated for Duchenne muscular dystrophy (DMD). The study evaluated the effect of therapeutic and supratherapeutic givinostat doses on the QT/QTc interval. Healthy volunteers received each treatment—givinostat hydrochloride monohydrate oral suspension as a therapeutic (100 mg) or ...
Eugenio Mercuri, Barry Byrne, Tracey Willis, John Bourke, Paolo Bettica, Sara Cazzaniga, Hongqi Xue, Borje Darpo   +7 more
wiley   +1 more source

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus [PDF]

, 1990
A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene
G. J. B. van Ommen, L. Blonden, M. Cremer, P. Vogt, T. Cremer, T. Ried, V. Mahler   +6 more
core   +1 more source

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Yasmina Rahmuni, Ilham Ratbi, Jaber Lyahyai, Imane Cherkaoui Jaouad, Ourayna Batta, Aziza Sbiti, Maryem Sahli, Omar Askander, Zineb Rchiad, Abdelaziz Sefiani   +9 more
wiley   +1 more source

Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference? [PDF]

, 2018
The physical and social challenges associated with neuromuscular disorders may impact mental wellbeing in non-ambulant youth during the more vulnerable period of adolescence.
Downs, Jenny, Hince, Dana, Patman, Shane, Travlos, Vivienne, Wilson, Andrew   +4 more
core   +1 more source