Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ejim.2007.12.008 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
McArdle Disease: Insights Into a Rare Metabolic Myopathy in a Young Boy With Recurrent Exercise-Induced Muscle Weakness.
Cureus
February 2025
Pediatric Neurology, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
McArdle disease, or glycogen storage disease type V, is a rare metabolic myopathy caused by a deficiency of myophosphorylase, leading to impaired glycogen breakdown in skeletal muscle. This results in exercise intolerance, muscle cramps, and episodic weakness. Due to its rarity and variable presentation, diagnosis is often delayed or misattributed to other neuromuscular disorders.
View Article and Find Full Text PDFCamptocormia as a feature of Mc Ardle's disease: A case report.
Mol Genet Metab Rep
March 2025
CHRU de Tours, Service de Médecine Interne, Centre de Référence des Maladies Héréditaires du Métabolisme Tours, France.
Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the gene. We report the case of a patient with typical exercise intolerance with a "second wind" phenomenon, associated with camptocormia which is not commonly recognized as a feature of the disease. Molecular analysis of the gene the common c.
View Article and Find Full Text PDFGlycogen storage disease type V: delayed diagnosis of a cause of exercise intolerance in a patient with hereditary haemorrhagic telangiectasia.
BMJ Case Rep
February 2025
Division of Pulmonary, Critical Care, and Sleep Medicine, University of Florida Health, Gainesville, Florida, USA
Hereditary haemorrhagic telangiectasia (HHT) is a genetic disorder characterised by epistaxis, mucocutaneous telangiectasias and arteriovenous malformations. Iron deficiency due to chronic bleeding events is a common manifestation that produces a range of nonspecific symptoms. We report on a patient with HHT with longstanding fatigue and exercise intolerance, which was persistently attributed to iron deficiency, who was revealed to have glycogen storage disease type V, an autosomal recessive metabolic myopathy caused by deficiency of myophosphorylase due to variants.
View Article and Find Full Text PDFAnti-Ebola virus mAb 3A6 protects highly viremic animals from fatal outcome via binding GP in a position elevated from the virion membrane.
Nat Commun
February 2025
Center for Vaccine Innovation, La Jolla Institute for Immunology, La Jolla, CA, USA.
Monoclonal antibodies (mAbs) against Ebola virus (EBOV) glycoprotein (GP) are the standard of care for Ebola virus disease (EVD). Anti-GP mAbs targeting the stalk and membrane proximal external region (MPER) potently neutralize EBOV in vitro and are protective in a mouse model of EVD. However, their neutralization mechanism is poorly understood because they target a GP epitope that has evaded structural characterization.
View Article and Find Full Text PDFMcArdle Disease: A Diagnostic Challenge Due to Nonspecific Clinical Manifestations.
Cureus
December 2024
Internal Medicine, Hospital Conde de Bertiandos, Unidade Local de Saúde do Alto Minho, Ponte de Lima, PRT.
McArdle disease is a rare myopathy caused by hereditary myophosphorylase deficiency. It presents nonspecific symptoms, such as intolerance to physical exercise, early fatigue, and myalgias, and represents a paradigmatic example of one of the main challenges in clinical practice: the recognition of nonspecific and common symptoms as clinically relevant manifestations of rare diseases. The nonspecificity of symptoms leads to a frequent delay from the onset of first clinical signs to diagnosis.
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!