Results 11 to 20 of about 273,495 (253)

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage [PDF]

, 2020
Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle.
Dellgren, Göran, Glamuzina, Emma, Hedberg-Oldfors, Carola, Hernandez-Lain, Aurelio, Kornblum, Cornelia, Oldfors, Anders, Roach, Peter, Sandstedt, Joakim, Tasca, Giorgio, Thomsen, Christer, Visuttijai, Kittichate   +10 more
core   +1 more source

Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation

Brain and Behavior, 2022
Introduction Mutations in the GFPT1 gene are associated with a particular subtype of congenital myasthenia syndrome (CMS) called limb‐girdle myasthenia with tubular aggregates.
Kaiyan Jiang, Yilei Zheng, Jing Lin, Xiaorong Wu, Yanyan Yu, Min Zhu, Xin Fang, Meihong Zhou, Xiaobing Li, Daojun Hong   +9 more
doaj   +1 more source

Intramuscular hematoma of the vastus lateralis following percutaneous skeletal muscle microbiopsy: a case report

Physiological Reports, 2021
Recently, percutaneous microbiopsy needles have been used as a less invasive alternative to the Bergstrom needle for obtaining human skeletal muscle biopsy to assess changes in protein content, gene expression, and enzymatic activities.
Patrick J. Drouin, Hashim Islam, Craig A. Simpson, Brendon J. Gurd   +3 more
doaj   +1 more source

Calcium Homeostasis in Myogenic Differentiation Factor 1 (MyoD)-Transformed, Virally-Transduced, Skin-Derived Equine Myotubes [PDF]

, 2014
Dysfunctional skeletal muscle calcium homeostasis plays a central role in the pathophysiology of several human and animal skeletal muscle disorders, in particular, genetic disorders associated with ryanodine receptor 1 (RYR1) mutations, such as malignant
A Hovnanian, A Klein, A Margreth, Atsushi Asakura, C Drogemuller, Cesare M. Terracciano, CM Isgren, DR Laver, E Zvaritch, EC McKenzie, EC McKenzie, F Ghassemi, FL Cole, G Avila, G Cherednichenko, Georges Vassaux, GG Harrison, GL Walmsley, H Gissel, H Jungbluth, H Weintraub, H Zhou, H Zhou, H Zhou, HK DiMaio Knych, J Choi, J Fujii, J Garcia, J Huang, J Larsen, J Ma, J Tong, JM Eltit, JM Eltit, JM Healy, JM MacLeay, JR Lopez, JR Lopez, JR Mickelson, K Anderson, K Jurkat-Rott, KP Glahn, L Csernoch, L Lattanzi, LR Lentz, M Aleman, M Fernandez-Fuente, M Fernandez-Fuente, MA Denborough, Marta Fernandez-Fuente, MC Roberts, MG Larach, MH Court, MJ Hull, MM Upjohn, N Dlamini, N Tilgen, NC Voermans, NM Burton, Pilar Martin-Duque, PJ Lynch, PK Dranchak, R Yasin, RA Bannister, RA Bannister, Richard J. Piercy, S Ducreux, S Gyorke, S Hollingworth, Susan C. Brown, T Abe, T Yang, TB Rogers, TC He, TV McCarthy, X Zhao   +75 more
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Statin and fibrate associed myopathy: study of eight patients [PDF]

Arquivos de Neuro-Psiquiatria, 2004
Lipid-lowering drugs have been occasionally associated with neuromuscular symptoms and muscle biopsy changes. We reported the clinical course and the muscle biopsy in eight patients with hyperlipoproteinemia, treated with lipid -lowering drugs (statins ...
Alzira A. Siqueira Carvalho, Ürsula Waleska Poti Lima, Raul Alberto Valiente   +2 more
doaj   +1 more source

Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature

Journal of International Medical Research, 2022
A 26-year-old Asian woman with persistent muscle weakness was diagnosed with polymyositis based on biopsy findings at another hospital 11 years ago. However, her symptoms fluctuated repeatedly under treatment with prednisone and immunosuppressive agents,
Xiaoli Pan, Yuan Yuan, Bangcui Wu, Wendan Zheng, Mei Tian   +4 more
doaj   +1 more source

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]

, 2020
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A, Baets, J, Clemen, CS, De Bleecker, Jan, De Jonghe, P, De Ridder, W, Eichinger, L, Hofmann, A, Johnson, K, Maudsley, S, Schröder, R, Straub, V, Töpf, A   +12 more
core   +1 more source

The challenges of muscle biopsy in a community based geriatric population

BMC Research Notes, 2018
Objectives To describe the difficulties of obtaining muscle samples using a Bergstrom needle technique in a frail older adult population. The data were obtained from a study primarily investigating immunosenescence in frailty.
Daisy Wilson, Leigh Breen, Janet M. Lord, Elizabeth Sapey   +3 more
doaj   +1 more source

Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease. [PDF]

, 2013
OBJECTIVES: To study muscle biopsy tissue from patients with juvenile dermatomyositis (JDM) in order to test the reliability of a score tool designed to quantify the severity of histological abnormalities when applied to biceps humeri in addition to ...
Amato, Anthony A, Banwell, Brenda, Bove, Kevin E, Charman, Susan C, Corse, Andrea M, Emslie-Smith, Alison M, Holton, Janice L, Jacques, Thomas S, Li, Charles K, Lundberg, Ingrid E, Marie, Suely KN, Minetti, Carlo, Nennesmo, Inger, Pilkington, Clarissa A, Rushing, Elisabeth J, Sallum, Adriana ME, Sewry, Caroline, UK Juvenile Dermatomyositis Research Group, Varsani, Hemlata, Wedderburn, Lucy R   +19 more
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Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]

, 2010
Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Arechavala-Gomeza, V, Bushby, K, Edge, G, Feng, L, Guglieri, M, Hunt, D, Kinali, M, Lehovsky, J, Main, M, Morgan, JE, Muntoni, F, Sewry, CA, Straub, V   +12 more
core   +1 more source