Results 41 to 50 of about 127,703 (256)
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
A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8 [PDF]
Brain Pathology, EarlyView.We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren +5 more
wiley +2 more sources
Necrotising autoimmune myopathy
, 2017 Necrotising Autoimmune Myopathy is a subacute proximal myopathy with high creatine kinase levels and biopsy findings of necrotic and regenerating fibres with minimal inflammation.
Catherine Ashton, Merrilee Needham
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
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan +5 more
wiley +1 more source
Vitamin D Deficiency Presenting as Proximal Myopathy: An Overlooked Diagnosis - A Case Series and Review of the Literature [PDF]
, 2022 The prevalence of vitamin D deficiency is ubiquitous. Severe disease can present very dramatically and can be misleading to the treating physician, resulting in mismanagement.
Venkatraman Rajkumar
core +1 more source
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
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]
, 2008 Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Geddes, Stella M. +8 more
core +1 more source