Results 21 to 30 of about 419,034 (232)

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations

Indian Journal of Pathology and Microbiology, 2022
Electron microscopy (EM) has a substantial role in the diagnosis of skeletal muscle disorders. The ultrastructural changes can be observed in muscle fibers and other components of the muscle tissue. EM serves as a confirmatory tool where the diagnosis is
Rashmi Santhoshkumar, Gayathri Narayanappa   +1 more
doaj   +1 more source

Myopathy reversion in mice after restauration of mitochondrial complex I

EMBO Molecular Medicine, 2020
Myopathies are common manifestations of mitochondrial diseases. To investigate whether gene replacement can be used as an effective strategy to treat or cure mitochondrial myopathies, we have generated a complex I conditional knockout mouse model lacking
Claudia V Pereira, Susana Peralta, Tania Arguello, Sandra R Bacman, Francisca Diaz, Carlos T Moraes   +5 more
doaj   +1 more source

Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

PLoS ONE, 2021
BackgroundOur aim was to present the experience of systematic, routine use of next generation sequencing (NGS) in clinical diagnostics of myopathies.MethodsExome sequencing was performed on patients with high risk for inherited myopathy, which were ...
Ivana Babić Božović, Aleš Maver, Lea Leonardis, Marija Meznaric, Damjan Osredkar, Borut Peterlin   +5 more
doaj   +1 more source

Diagnosis and Treatment of Mitochondrial Myopathies [PDF]

Mitochondrial myopathies are progressive muscle conditions caused primarily by the impairment of oxidative phosphorylation (OXPHOS) in the mitochondria. This causes a deficit in energy production in the form of adenosine triphosphate (ATP), particularly ...
Russell OM, Vincent AE, Craven C, Turnbull DM, Ahmed ST   +4 more
core   +5 more sources

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

Mitochondrial myopathies [PDF]

Current Opinion in Rheumatology, 2006
Our understanding of mitochondrial diseases (defined restrictively as defects of the mitochondrial respiratory chain) is expanding rapidly. In this review, I will give the latest information on disorders affecting predominantly or exclusively skeletal muscle.The most recently described mitochondrial myopathies are due to defects in nuclear DNA ...
openaire   +3 more sources

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

A Childhood Inflammatory Myopathy with Cytochrome Oxidase Deficiency: Which Came First, the Chicken or the Egg?

Journal of Behçet Uz Children's Hospital, 2023
Inflammatory myopathies are autoimmune disorders rarely seen in childhood. Normally high-dose corticosteroid is the current treatment for inflammatory myopathies. For a specific subgroup of patients with inflammatory myopathy with cytochrome oxidase (COX)
Gülden Diniz, Önder Yavaşcan, Ümit Başak Şarkış, Zübeyde Yıldırım, Caner Alparslan, Can Öztürk, Afig Berdeli   +6 more
doaj   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Progression of myopathology in Kearns-Sayre syndrome [PDF]

, 1992
We report on the progression of myopathology by comparing two biopsies from a patient with a Kearns-Sayre-Syndrome. The first biopsy was taken in 1979 and showed 10% ragged-red fibers.
Klopstock, T., Walter, U., Meurers, B., Heinz Reichmann, R. Gold, Naumann, Markus, Seibel, P., M. Naumann, Klopstock, Thomas, U. Walter, Naumann, M., P. Seibel, T. Klopstock, Gold, R., Reichmann, Heinz, B. Meurers   +15 more
core   +1 more source