Results 41 to 50 of about 12,800 (285)

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

Molecular Genetics and Metabolism Reports, 2020
Glycogen storage disease type XV (GSD XV) is a recently described muscle glycogenosis due to glycogenin-1 (GYG1) deficiency characterized by the presence of polyglucosan bodies on muscle biopsy (Polyglucosan body myopathy-2, PGBM2). Here we describe a 44 
Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt   +8 more
doaj   +1 more source

Rhabdomyolysis: a genetic perspective [PDF]

, 2015
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner, Edmar Zanoteli, Heinz Jungbluth, Henry Houlden, Janice L Holton, Jefferson Becker, Renata Siciliani Scalco, Robert DS Pitceathly, Ros Quinlivan   +8 more
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GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy

Frontiers in Neurology, 2018
GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist.
Tyler Soule, Cecile Phan, Chris White, Lothar Resch, Atilano Lacson, Kristina Martens, Gerald Pfeffer, Gerald Pfeffer   +7 more
doaj   +1 more source

A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report

BMC Neurology, 2019
Background Myofibrillar myopathies (MFMs) are a genetically heterogeneous group of muscle disorders. Mutations in the filamin C gene (FLNC) have previously been identified in patients with MFM. The phenotypes of FLNC-related MFM are heterogeneous.
Juanjuan Chen, Jun Wu, Chunxi Han, Yao Li, Yuzu Guo, Xiaoxin Tong   +5 more
doaj   +1 more source

Ultrasound-Guided Femoral and Sciatic Nerve Blocks for Repair of Tibia and Fibula Fractures in a Bennett's Wallaby (Macropus rufogriseus) [PDF]

, 2016
Locoregional anesthetic techniques may be a very useful tool for the anesthetic management of wallabies with injuries of the pelvic limbs and may help to prevent capture myopathies resulting from stress and systemic opioids’ administration.
Adami, C, Campoy, L, Monticelli, P
core   +5 more sources

Good response to plasmapheresis and mycophenolate mofetil in a patient with anti-synthetase syndrome associated with peripheral neuritis and severe prosthetic aortic valve stenosis

Egyptian Rheumatology and Rehabilitation, 2022
Background Idiopathic inflammatory myopathies (IIM) are a disease complex that encompasses several distinctly acquired muscle illnesses. Anti-synthetase syndrome is a subset of IIM that is characterized by the presence of antibodies against aminoacyl ...
Zahraa Nour Eldine Ismail, Elham Azmy Abdulkader Abdellatif   +1 more
doaj   +1 more source

Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature

Frontiers in Neurology, 2023
IntroductionRimmed vacuolar myopathies (RVMs) are a group of genetically heterogeneous diseases that share histopathological characteristics on muscle biopsy, including the aberrant accumulation of autophagic vacuoles. However, the presence of non-coding
Xiao-jing Wei, Hui Sun, Jing Miao, Ru-qing Qiu, Zong-zhi Jiang, Zhen-wei Ma, Wei Sun, Xue-fan Yu   +7 more
doaj   +1 more source

The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands [PDF]

, 1996
A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD).
Bakker, E. (Egbert), Barth, P.G. (Peter), Bolhuis, P.A. (P.), Busch, H.F.M. (Herman), Essen, J.A. (Anthonie) van, Ginjaar, I.B. (Ieke), Haan, R.J. (Rob) de, Hooff, L.J.M.A. (L. J M A) van, Höweler, C.J. (Chris), Jennekens, F.G.I. (Frans G.), Jongen, P. (P.), Kooj, A.J. (Anneke), Ommen, G.J. (Gert) van, Oosterhuis, H.J.G.H. (H. J G H), Padberg, B. (Barbara), Spaans, F. (F.), Visser, M. (Marianne) de, Wintzen, A.R. (Axel), Wokke, J.H.J. (John)   +18 more
core   +1 more source

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

HGG Advances, 2023
Summary: Contraction of the human sarcomere is the result of interactions between myosin cross-bridges and actin filaments. Pathogenic variants in genes such as MYH7, TPM1, and TNNI3 that encode parts of the cardiac sarcomere cause muscle diseases that ...
Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, Michael Regnier, Michael J. Bamshad   +17 more
doaj   +1 more source

Molecular mechanisms in idiopathic inflammatory myopathies [PDF]

, 2014
Background: Myositis is a group of rare autoimmune diseases. Muscle weakness and fatigue are the dominant symptoms and inflammation with T cells and macrophages is a characteristic finding in muscle tissue.
Zong, Mei
core   +1 more source