Weaning difficulty after severe pneumonia in adult-onset mitochondrial myopathy with A3243G mutation in the mitochondrial tRNA gene: A case report [PDF]
Heliyon, 2023 Background: Mitochondrial myopathy is a group of diseases caused by abnormal mitochondrial structure or function. The mitochondrial myopathy impacts muscles of the whole body and exhibits variable symptoms.
Xiong Peng +6 more
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Anesthesia for bariatric surgery in patient with mitochondrial myopathy – case report [PDF]
Brazilian Journal of Anesthesiology, 2021 Mitochondrial Myopathy is a rare pathology caused by a defect in the mitochondrial DNA metabolism, leading to defects in the formation of adenosine triphosphate, in the Krebs citric acid cycle, fatty acid oxidation and oxidative phosphorylation.
Carlos Eduardo Coimbra Melonio +6 more
doaj +2 more sources
Mitochondrial Myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling [PDF]
Journal of Primary Care & Community Health, 2023 Bilateral lower extremity weakness and swelling can have several causes. Although often underdiagnosed, mitochondrial myopathy is more prevalent in the general population than more commonly suspected diseases, such as Guillain-Barre syndrome.
Kavya Bharathidasan +4 more
doaj +2 more sources
DELE1 maintains muscle proteostasis to promote growth and survival in mitochondrial myopathy [PDF]
The EMBO JournalMitochondrial dysfunction causes devastating disorders, including mitochondrial myopathy, but how muscle senses and adapts to mitochondrial dysfunction is not well understood.
Hsin-Pin Lin +12 more
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Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China [PDF]
Frontiers in Neurology, 2020 Introduction: Mitochondrial myopathy in children has notable clinical and genetic heterogeneity, but detailed data is lacking.Patients and Methods: In this study, we retrospectively reviewed the clinical presentation, laboratory investigation, genetic ...
Chaoping Hu +5 more
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OXA1L deficiency causes mitochondrial myopathy via reactive oxygen species regulated nuclear factor kappa B signalling pathway [PDF]
Clinical and Translational MedicineBackground OXA1L is crucial for mitochondrial protein insertion and assembly into the inner mitochondrial membrane, and its variants have been recently linked to mitochondrial encephalopathy. However, the definitive pathogenic link between OXA1L variants
Yongkun Zhan +11 more
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A case report of mitochondrial myopathy with membranous nephropathy [PDF]
BMC Nephrology, 2022 Background MtDNA 3243 A > G mutation leads to mitochondrial myopathies with predominant hyperlactatemia. Given the ubiquitous nature of mitochondria, cellular dysfunction can also appear in tissues with high metabolic turnover; thus, there can be cardiac,
Minchao Cai, Qing Yu, Jinfang Bao
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Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression [PDF]
Frontiers in Neurology, 2022 The nuclear gene TK2 encodes the mitochondrial thymidine kinase, an enzyme involved in the phosphorylation of deoxycytidine and deoxythymidine nucleosides.
Arianna Manini +10 more
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Respiratory failure as the prominent manifestation of entecavir-associated mitochondrial myopathy: a case report [PDF]
BMC Infectious Diseases, 2022 Background Mitochondrial myopathy caused by the long-term use of nucleos(t)ide analogue in patients with chronic hepatitis B (CHB) is mostly characterized by myasthenia and myalgia.
Xiao Lin +3 more
doaj +2 more sources
Regular exercise attenuates alcoholic myopathy in zebrafish by modulating mitochondrial homeostasis.
PLoS ONE, 2023 Alcoholic myopathy is caused by chronic consumption of alcohol (ethanol) and is characterized by weakness and atrophy of skeletal muscle. Regular exercise is one of the important ways to prevent or alleviate skeletal muscle myopathy.
Wei Wen +8 more
doaj +1 more source