Results 41 to 50 of about 116,069 (304)

Critical Illness Myopathy.

, 2020
Critical illness myopathy (CIM) is a primary myopathy associated with increased mortality and morbidity, which frequently develops in severely ill patients.
Hatice Tankisi, Werner J. Z'Graggen, Tankisi, Hatice, Z'Graggen, Werner J.   +3 more
core   +1 more source

Nemaline myopathy in newly diagnosed systemic lupus erythematosus and Sjögren’s overlap syndrome complicated by macrophage activation syndrome

BMC Rheumatology, 2022
Background Nemaline myopathies are congenital or acquired muscle disorders that typically present in childhood but can occasionally occur in adults with underlying malignant, infectious or autoimmune disorders.
Christina Vogel, Poonam Manwani, Marcia E. Cornford, Emil R. Heinze   +3 more
doaj   +1 more source

CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES [PDF]

Neuromuscular Disorders, 2021
V. Lehtokari, M. Similä, M. Tammepuu, S. Hiekkala, S. Strang-Karlsson, C. Wallgren-Pettersson   +5 more
  +8 more sources

Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

Acta Neuropathologica Communications, 2018
Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible ...
Tamar E. Sztal, Emily A. McKaige, Caitlin Williams, Viola Oorschot, Georg Ramm, Robert J. Bryson-Richardson   +5 more
doaj   +1 more source

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

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., Keep, Nicholas H., Bashir, R., Driscoll, P.C., Patel, P., Harris, R., Bushby, K., Watson, J.D., Strehle, E.M.   +8 more
core   +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

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

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

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation [PDF]

, 2013
We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle ...
Rokach, O., Ruben Attali, Nevo, Y., Talya Dor, Fellig, Y., Straussberg Rachel, Rachel Straussberg, Aharoni S, TREVES, Susan Nella, Daana, M., Fellig Yakov, Becker Cohen Michal, Mitrani-Rosenbaum Stella, Attali R, Attali Ruben, Yoram Nevo, Rokach O, Attali, R., Dor, T., Becker Cohen M, Susan Treves, Mitrani-Rosenbaum, S., Fellig Y, Aharoni, S., Mitrani Rosenbaum S, Treves, S., Dor T, Nevo Yoram, Aharoni Sharon, Straussberg, R., Michal Becker Cohen, Dor Talya, Straussberg R, Becker Cohen, M., Ori Rokach, Muhannad Daana, Nevo Y., Treves Susan, Daana Muhannad, Stella Mitrani-Rosenbaum, Rokach Ori, Yakov Fellig, Daana M, Sharon Aharoni   +43 more
core   +1 more source