Results 41 to 50 of about 159,117 (304)
GYG1: A distal myopathy with polyglucosan bodies
JIMD Reports, 2020 Mutations in glycogenin‐1 (GYG1) cause an adult‐onset polyglucosan body myopathy. We report here a patient presenting with late‐onset distal myopathy. We wish to highlight this rare clinical phenotype of GYG1‐related myopathy and the histological clues ...
Stefan Nicolau +4 more
doaj +1 more source
GNE myopathy: from clinics and genetics to pathology and research strategies
Orphanet Journal of Rare Diseases, 2018 GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova +4 more
doaj +1 more source
Major Histocompatibility Complex I and II Expression and Lymphocytic Subtypes in Muscle of Horses with Immune-Mediated Myositis. [PDF]
, 2016 BackgroundMajor histocompatibility complex (MHC) I and II expression is not normally detected on sarcolemma, but is detected with lymphocytic infiltrates in immune-mediated myositis (IMM) of humans and dogs and in dysferlin-deficient muscular dystrophy ...
Barnes, N +6 more
core +1 more source
Frontiers in Veterinary Science, 2020 Selection for quantitative traits in meat broilers such as breast yield and growth rate exert physiological pressure leading to ante mortem histological and biochemical alterations in muscle tissues. The poultry industry has recently witnessed a myopathy
Pramir Maharjan +6 more
doaj +1 more source
The role of Coenzyme Q10 in statin-associated myopathy [PDF]
, 2009 Statins, or 3-hydroxyl-3-methylglutaryl coenzyme HMG-CoA reductase inhibitors,\ud are cholesterol-lowering drugs which are frequently used in the primary and secondary\ud prevention of coronary artery disease. Current research and recommendations support\
Kalra, Dr Sanjay
core
Effect of "wooden breast" appearance on poultry meat quality, histological traits, and lesions characterization [PDF]
, 2017 The purposes of the study were to investigate the effects of Wooden Breast (WB) myodegeneration on poultry meat quality and to give a contribution in typing lesions morphology.
Catelli, Elena +6 more
core +3 more sources
Neurologic Clinics, 2014 In this article, distal myopathy syndromes are discussed. A discussion of the more traditional distal myopathies is followed by discussion of the myofibrillar myopathies. Other clinically and genetically distinctive distal myopathy syndromes usually based on single or smaller family cohorts are reviewed. Other neuromuscular disorders that are important
Mazen M, Dimachkie, Richard J, Barohn
openaire +2 more sources
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
European Journal of Paediatric Neurology, 2001 Most congenital myopathies have been defined on account of the morphological findings in enzyme histochemical preparations. In effect, the diagnosis of this group of diseases continues to be made on the histological pattern of muscle biopsies. However, progress has been made in elucidating the molecular genetic background of several of the congenital ...
A, Bornemann, H H, Goebel
openaire +5 more sources
A multistate transition model for statin‐induced myopathy and statin discontinuation
CPT: Pharmacometrics & Systems Pharmacology, 2021 The overarching goal of this study was to simultaneously model the dynamic relationships among statin exposure, statin discontinuation, and potentially statin‐related myopathic outcomes.
Yuxi Zhu +9 more
doaj +1 more source