Results 11 to 20 of about 615,554 (304)
Mitochondrial cardiomyopathy with skeletal muscle myopathy caused by m.3260A > G mutation in MT-TL1 gene: a case report [PDF]
Journal of Medical Case ReportsBackground Mitochondrial myopathies are a group of rare hereditary disorders that primarily affect muscle tissue, and present with muscle weakness, fatigue, exercise intolerance, and muscle pain.
Anda Kadiša +4 more
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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 ...
S. Dimauro
semanticscholar +4 more sources
Autophagy in muscle regeneration: potential therapies for myopathies
Journal of Cachexia, Sarcopenia and Muscle, 2022 Autophagy classically functions as a physiological process to degrade cytoplasmic components, protein aggregates, and/or organelles, as a mechanism for nutrient breakdown, and as a regulator of cellular architecture.
Wei Chen +3 more
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Mitochondrial myopathies [PDF]
British Medical Bulletin, 1989 The mitochondrial myopathies give rise to a diverse group of clinical syndromes, variably involving skeletal muscle and the central nervous system, with onset in childhood or adult life. In vitro studies of mitochondrial metabolism have identified a variety of functional defects of the respiratory chain, predominantly affecting complex I or complex III
A E, Harding, I J, Holt
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CONVENTIONAL APPROACHES TO THE THERAPY OF HEREDITARY MYOPATHIES
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
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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
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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
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Autoimmunity Reviews, 2023 We investigated the relationship between oxidative stress and inflammatory myopathies. We searched in the current literature the role of mitochondria and respiratory chain defects as sources of oxidative stress and reactive oxygen species production that
M. Danieli +5 more
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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
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