Results 71 to 80 of about 54,841 (223)

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

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

Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene

Journal of Zhejiang University SCIENCE B, 2019
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the DMD gene. The aim of this study is to identify pathogenic DMD variants in probands and reduce the risk of recurrence of the disease in affected families.
Yan-mei Yang, K. Yan, Bei Liu, Min Chen, Li-ya Wang, Ying-zhi Huang, Yeqing Qian, Yi-xi Sun, Hong-ge Li, Minyue Dong   +9 more
semanticscholar   +1 more source

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 251-262, February 2026.
In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo, Fleur Vansenne, Jessika F. van Hoorn, Marina A. J. Tijssen, Dineke S. Verbeek, Deborah A. Sival   +5 more
wiley   +1 more source

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

Duchenne and Becker muscular dystrophy in adolescents: current perspectives

Adolescent Health, Medicine and Therapeutics, 2018
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are life-limiting and progressive neuromuscular conditions with significant comorbidities, many of which manifest during adolescence.
J. Andrews, R. Wahl
semanticscholar   +1 more source

Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine

PLoS ONE, 2018
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles.
F. Mohammed, A. Elshafey, Haya H. Al-Balool, Hayat Alaboud, Mohammed Al Ben Ali, Adel Baqer, L. Bastaki   +6 more
semanticscholar   +1 more source

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia

European Journal of Neurology, Volume 33, Issue 2, February 2026.
ABSTRACT Background Recent epidemiological studies on the general population reveal that up to 1.3% have oligo/asymptomatic hyperCKemia. Objective This guideline aims to provide updated, evidence‐based recommendations on investigating persons older than 18 years.
T. Kyriakides, K. Aleksovska, C. Angelini, Z. Argov, K. G. Claeys, M. de Visser, M. FIlosto, I. Jovanovic, A. Kostera‐Pruszczyk, M. J. Molnar, S. Sacconi, J. Schaefer, G. Siciliano, J. J. Vilchez, B. Schoser, A. Toscano   +15 more
wiley   +1 more source

Are Muscular Dystrophies Cholesterol‐Handling Diseases? Lessons From HMGCR Variants and Statin‐Associated Myopathies

JCSM Communications, Volume 9, Issue 1, January/June 2026.
ABSTRACT Background Muscular dystrophies (MD) are a genetically diverse group of muscle disorders, many of which arise from mutations in genes encoding components of the sarcolemma dystrophin‐associated glycoprotein complex (DGC). Despite their notorious heterogeneity, MDs consistently lead to chronic myofiber weakening, necrosis and loss of muscle ...
Yejin Kang, Pascal Bernatchez
wiley   +1 more source

Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy.

Cochrane Database of Systematic Reviews, 2018
BACKGROUND The dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy (XLDCM).
J. Bourke, T. Bueser, R. Quinlivan
semanticscholar   +1 more source