Results 21 to 30 of about 4,799 (165)

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, Jennifer A. Tracy, David J. Pisapia, Kurenai Tanji, Margherita Milone   +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, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos   +4 more
doaj   +1 more source

Ofatumumab in Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease: A Comparison With Rituximab

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, Lei Zhou, Jingzi ZhangBao, Hongmei Tan, Zhouzhou Wang, Chao Quan   +5 more
wiley   +1 more source

Characterizing Woody Breast Myopathy in a Meat Broiler Line by Heat Production, Microbiota, and Plasma Metabolites

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, Katie Hilton, Jordan Weil, Nawin Suesuttajit, Antonio Beitia, Casey M. Owens, Craig Coon   +6 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, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +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, Chien‐Wei Chiang, Lei Wang, Guy Brock, M. Wesley Milks, Weidan Cao, Pengyue Zhang, Donglin Zeng, Macarius Donneyong, Lang Li   +9 more
doaj   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

Orphanet Journal of Rare Diseases, 2020
Background Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region.
Meng Yu, Ying Zhu, Yuanyuan Lu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang   +6 more
doaj   +1 more source

Effect of wooden breast myopathy on water-holding capacity and rheological and gelling properties of chicken broiler breast batters

Poultry Science, 2020
The objective of this study was to evaluate the effects of wooden breast myopathy on water-holding, rheological, and gelling properties of chicken broiler breast batter. As to water-holding capacity, wooden breast myopathy significantly increased cooking
Yulong Zhang, Peng Wang, Xinglian Xu, Tianlan Xia, Zhen Li, Tianjiao Zhao   +5 more
doaj   +1 more source