Results 71 to 80 of about 31,110 (115)

‘Weak by Structure’—Limb Muscle Fibre Cytoarchitecture Remodelling During Critical Illness and Effects of Chaperone Co-Inducer BGP-15 and Dissociative Glucocorticoid VBP-15

Cells
Critical illness myopathy (CIM) is linked to mechanical ventilation and complete mechanical muscle silencing in intensive care unit (ICU) patients. Limb muscles show atrophy and declined specific single fibre force through altered protein turnover and ...
Julian Bauer, Sofia Mnuskina, Anette Wirth-Hücking, Michael Haug, Dominik Schneidereit, Stefanie Nübler, Lucas Kreiß Roohian, Sebastian Schürmann, Nicola Cacciani, Lars Larsson, Oliver Friedrich   +10 more
doaj   +1 more source

Activation of p53-regulated pro-apoptotic signaling pathways in PrP-mediated myopathy

BMC Genomics, 2009
Background We have reported that doxycycline-induced over-expression of wild type prion protein (PrP) in skeletal muscles of Tg(HQK) mice is sufficient to cause a primary myopathy with no signs of peripheral neuropathy.
Wang Meiling, Huang Shenghai, Landry Laura, Sorensen Garrett, Medina Sarah, Parchaliuk Debra, Liang Jingjing, Kong Qingzhong, Booth Stephanie A   +8 more
doaj   +1 more source

Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction

European Journal of Neurology, Volume 33, Issue 7, July 2026.
ABSTRACT Background Agrin‐congenital myasthenic syndrome (AGRN‐CMS) is a rare, heterogeneous genetic disorder of the neuromuscular transmission that can present from infancy to adulthood. The clinical phenotype includes distal weakness mimicking distal myopathies.
Mariana Manoel Oku, Zhiyv Niu, Duygu Selcen, William J. Litchy, Margherita Milone   +4 more
wiley   +1 more source

Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?

Homozygous KY variants have been described to cause congenital myopathy, myofibrillar myopathy type 7, and hereditary spastic paraplegia. We report the findings in two families harboring the homozygous missense NM_178554.4:c.727T > C p.(Cys243Arg) and ...
Durmuş, H, Dursun, M, Mertoğlu, E, Ceylaner, S, Hofmann, A, Schlötzer-Schrehardt, U, Parman, Y, Uçar, EÖ, Sewry, CA, Schröder, R, Clemen, CS   +10 more
core   +2 more sources

Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy

Genes and Diseases, 2018
Myofibrillar myopathies (MFMs) are rare genetic and slowly progressive neuromuscular disorders. Several pathogenic mutations have been reported in MFM-related genes including DES, CRYAB, MYOT, LDB3 or ZASP, FLNC, BAG3, FHL1 and DNAJB6.
Reza Ebrahimzadeh-Vesal, Atieh Teymoori, Ali Mohammad Dourandish, Mohsen Azimi-Nezhad   +3 more
doaj   +1 more source

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

Chinese Medical Journal, 2019
. Background:. Desminopathy, a hereditary myofibrillar myopathy, mainly results from the desmin gene (DES) mutations. Desminopathy involves various phenotypes, mainly including different cardiomyopathies, skeletal myopathy, and arrhythmia.
Peng Fan, Chao-Xia Lu, Xue-Qi Dong, Di Zhu, Kun-Qi Yang, Ke-Qiang Liu, Di Zhang, Ying Zhang, Xu Meng, Hui-Qiong Tan, Li-Tian Yu, Ke-Fei Dou, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou, Yi Cui   +15 more
doaj   +1 more source

Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course

, 2022
Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) is caused by homozygous or compound heterozygous mutation in the MEGF10 gene (OMIM #614399).
Pedemonte M., Scala M., Croci C., Fiorillo C., Traverso M., Iacomino M., Bruno C., Baratto S., Caroli F.   +8 more
core   +1 more source

Myofibrillar protein and gene expression in acute quadriplegic myopathy

, 2009
The dramatic muscle wasting, preferential loss of myosin and impaired   muscle function in intensive care unit (ICU) patients with acute   quadriplegic myopathy (AQM) have traditionally been suggested to be the   result of proteolysis via specific ...
Zahrisson, Håkan, Libelius, Rolf,, Libelius, R, Larsson, L,, Eriksson, Lars I, Norman, Holly, Nordquist, Jenny,, Hedstrom, Y, Norman, H, Larsson, Lars,, Eriksson, LI, Nordquist, J, Andersson, Per,, Larsson, Lars, Libelius, Rolf, Norman, Holly,, Zackrisson, Håkan, Andersson, P, Hedström, Yvette,, Hedström, Yvette, Andersson, Per, Nordquist, Jenny, Zackrisson, H   +22 more
core   +1 more source

Characterizing the Catalytic Action of μ-Calpain on Myofibrillar Protein Structure [PDF]

, 2006
Solving the problem of inconsistent meat tenderness is a top priority of the meat industry. This requires a greater understanding of the processes that affect meat tenderness and the adoption of such information by the meat industry. It is essential that
Fraser-Smith, Emma Louise
core  

Myofibrillar myopathy: A case report

, 2018
Myofibrillar myopathies (MFMs) are a genetically or clinically heterogeneous group of diseases that are characterized by focal myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple ...
구혜수, 박기덕
core   +1 more source