Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy [PDF]
Cell Reports, 2019 Summary: The mosaic distribution of cytochrome c oxidase+ (COX+) and COX− muscle fibers in mitochondrial disorders allows the sampling of fibers with compensated and decompensated mitochondrial function from the same individual.
Marta Murgia +5 more
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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
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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
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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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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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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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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In Vitro Assays for the Assessment of Impaired Mitochondrial Bioenergetics in Equine Atypical Myopathy [PDF]
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 +6 more
doaj +2 more sources
Diagnostic Testing in Suspected Primary Mitochondrial Myopathy [PDF]
Muscles, 2023 The diagnosis of primary mitochondrial myopathy is often delayed by years due to non-specific clinical symptoms as well as variable testing of mitochondrial disorders.
Jose C. Hinojosa, Salman Bhai
doaj +2 more sources