Results 21 to 30 of about 44,988 (276)

The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis. [PDF]

, 2020
Background: The cytokine growth differentiation factor-15 (GDF-15) has been associated with inflammatory and mitochondrial disease, warranting exploration of its expression in myositis patients.
De Bleecker, Jan, De Paepe, Boel, Verhamme, Fien   +2 more
core   +2 more sources

Chronic progressive external ophthalmoplegia vs. myasthenia gravis – case report and review of literature [PDF]

Romanian Journal of Neurology, 2020
The mitochondrial myopathy consists of a heterogeneous group of conditions characterized by primary disfunction of mitochondrial respiratory chain causing muscle disease.
Alexandru Dima, Alexandra Oprisan, Alexandra E. Bastian   +2 more
doaj   +1 more source

A review of several myopathy related to mitochondrial dysfunction

Нотатки сучасної біології, 2022
The balance of protein production and consumption in muscles depends to a large extent on normal mitochondrial function. Mitochondrial dysfunction is inseparable from the occurrence of myopathy.
Wang Nan, Oleksandr Motuziuk, Dmytro Davydenko   +2 more
doaj   +1 more source

Mitochondrial Myopathies [PDF]

Archives of Neurology, 1998
One of the great challenges in molecular biology is to understand the mechanisms by which a particular genetic defect gives rise to the disease or diseases associated with it. Mitochondrial myopathies are no exception. This review emphasizes some of the important mechanisms that can modify the phenotypic expression of the genetic disorders seen in ...
openaire   +3 more sources

Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]

, 2019
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria, Domínguez González, Cristina, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge M., Hernández Laín, Aurelio, Hernández Voth, Ana R., Paradas, Carmen, Rivas, Eloy, Sayas Catalán, Javier   +9 more
core   +1 more source

Mitochondrial stress in advanced fibrosis and cirrhosis associated with chronic hepatitis B, chronic hepatitis C, or nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro, Issam Tout, Stéphanie Narguet, Cheikh Mohamed Bed, Morgane Roinard, Ahmad Sleiman, Nathalie Boyer, Nathalie Pons‐Kerjean, Corinne Castelnau, Nathalie Giuly, Dorothy Tonui, Vassili Soumelis, Jamel El Benna, Patrick Soussan, Richard Moreau, Valérie Paradis, Abdellah Mansouri, Tarik Asselah   +17 more
wiley   +1 more source

In Vitro Assays for the Assessment of Impaired Mitochondrial Bioenergetics in Equine Atypical Myopathy

Life, 2021
Equine atypical myopathy is a seasonal intoxication of grazing equids. In Europe, this poisoning is associated with the ingestion of toxins contained in the seeds and seedlings of the sycamore maple (Acer pseudoplatanus).
Caroline-J. Kruse, David Stern, Ange Mouithys-Mickalad, Ariane Niesten, Tatiana Art, Hélène Lemieux, Dominique-M. Votion   +6 more
doaj   +1 more source

Anesthetic care for a child with undiagnosed myopathic/mitochondrial disease for gastrostomy tube placement and muscle biopsy. [PDF]

Pediatric Anesthesia and Critical Care Journal (PACCJ), 2020
Disorders of the motor nerves, neuromuscular junction or muscle can affect children of all ages. These patients may present for therapeutic or diagnostic procedures (muscle and nerve biopsy) prior to arrival at a definitive diagnosis.
D. M. Munlemvo, A. Syed, N. Kimmet, S. Hayes, J. D. Tobias   +4 more
doaj   +1 more source

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia [PDF]

, 2017
NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the 'supernumerary' group of subunits, but proved to be absolutely essential for the assembly of an active complex I.
Bertini, Enrico, Bianchi, Marzia, Carrozzo, Rosalba, Christodoulou, John, Di Nottia, Michela, Diodato, Daria, Dionisi Vico, Carlo, Francisci, Silvia, Gelmetti, Vania, Guo, Yiran, Lucarelli, Barbarella, Martinelli, Diego, Montanari, Arianna, Niceta, Marcello, Piemonte, Fiorella, Riley, Lisa, Rizza, Teresa, Sorrentino, Francesco, Tartaglia, Marco, Torraco, Alessandra, Valente, Enza Maria, Verrigni, Daniela   +21 more
core   +2 more sources

Mitochondrial myopathy presenting as fibromyalgia: a case report

Journal of Medical Case Reports, 2012
Introduction To the best of our knowledge, we describe for the first time the case of a woman who met the diagnostic criteria for fibromyalgia, did not respond to therapy for that disorder, and was subsequently diagnosed by biochemical and genetic ...
Abdullah Mishal, Vishwanath Sahana, Elbalkhi Amro, Ambrus Julian L   +3 more
doaj   +1 more source