Results 1 to 10 of about 419,034 (232)
Understanding mitochondrial myopathies: a review [PDF]
PeerJ, 2018 Mitochondria are small, energy-producing structures vital to the energy needs of the body. Genetic mutations cause mitochondria to fail to produce the energy needed by cells and organs which can cause severe disease and death. These genetic mutations are
Abhimanyu S. Ahuja
doaj +5 more sources
CONVENTIONAL APPROACHES TO THE THERAPY OF HEREDITARY MYOPATHIES [PDF]
Фармация и фармакология (Пятигорск), 2022 The aim of the work was to analyze the available therapeutic options for the conventional therapy of hereditary myopathies.Materials and methods. When searching for the material for writing a review article, such abstract databases as PubMed and Google ...
M. V. Pokrovsky +9 more
doaj +2 more sources
Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies [PDF]
Molecular Genetics and Metabolism ReportsMitochondrial myopathies are progressive muscle disorders caused by impaired mitochondrial oxidative phosphorylation, leading to reduced adenosine triphosphate production. Skeletal muscles have a high energy demand and are often the first to be affected.
Sylvia Rose +9 more
doaj +2 more sources
Noninvasive Assessments of Mitochondrial Capacity in People with Mitochondrial Myopathies [PDF]
MusclesPeople affected by mitochondrial myopathies (MITOs) are thought to have impaired skeletal muscle oxygenation. The aims of this study were to measure skeletal muscle mitochondrial capacity in MITO participants and able-bodied (AB) participants and ...
Kevin K. McCully +2 more
doaj +2 more sources
Rhabdomyolysis: a narrative review [PDF]
Arquivos de Neuro-PsiquiatriaRhabdomyolysis is the acute necrosis of striated skeletal muscle, with release of its constituents into the extracellular space and circulation. Acute muscle pain (myalgia), weakness, and edema are associated with serum levels of the muscle enzyme ...
Celia Harumi Tengan +6 more
doaj +2 more sources
Diagnosis and Treatment of Mitochondrial Myopathies [PDF]
Neurotherapeutics, 2018 Amy E Vincent +2 more
exaly +2 more sources
Approach to the diagnosis of metabolic myopathies
Indian Journal of Pathology and Microbiology, 2022 Metabolic myopathies are a diverse group of genetic disorders that result in impaired energy production. They are individually rare and several have received the 'orphan disorder' status. However, collectively they constitute a relatively common group of
Madhu Nagappa, Gayathri Narayanappa
doaj +1 more source
Serum Neurofilament Light Chain: A Marker of Nervous System Damage in Myopathies
Frontiers in Neuroscience, 2021 Purpose: Neurofilament light chain in serum (sNfL) has been suggested as a biomarker for the assessment of neuroaxonal damage. Since NfL are not expressed in muscle, elevated sNfL in patients with primary myopathies suggest additional nervous system ...
Annika Saak +7 more
doaj +1 more source
Mitochondrial myopathies: current diagnosis (I) [PDF]
Romanian Journal of Neurology, 2010 Mitochondrial diseases can present at any age and include a combination of multisystemic symptoms. Major manifestations of muscle involvement include infantile hypotonia, weakness, and lactic acidosis; severe exercise intolerance and easy fatigability ...
Tudor Rasanu +5 more
doaj +1 more source
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy
EMBO Molecular Medicine, 2023 Mitochondrial diseases are a heterogeneous group of monogenic disorders that result from impaired oxidative phosphorylation (OXPHOS). As neuromuscular tissues are highly energy‐dependent, mitochondrial diseases often affect skeletal muscle.
Nneka Southwell +15 more
doaj +1 more source