Mutational Analysis and mtDNA Haplogroup Characterization in Three Serbian Cases of Mitochondrial Encephalomyopathies and Literature Review [PDF]
Diagnostics, 2021 Mitochondrial encephalomyopathies (MEMP) are heterogeneous multisystem disorders frequently associated with mitochondrial DNA (mtDNA) mutations. Clinical presentation varies considerably in age of onset, course, and severity up to death in early ...
Phepy G. A. Dawod +11 more
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Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants. [PDF]
PLoS ONE, 2007 BACKGROUND: Mitochondrial encephalomyopathies are a heterogeneous group of clinical disorders generally caused due to mutations in either mitochondrial DNA (mtDNA) or nuclear genes encoding oxidative phosphorylation (OXPHOS).
Aijaz A Wani +8 more
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Childhood mitochondrial encephalomyopathies: clinical course, diagnosis, neuroimaging findings, mtDNA mutations and outcome in six children. [PDF]
Ital J Pediatr, 2013 Mitochondrial dysfunction manifests in many forms during childhood. There is no effective therapy for the condition; hence symptomatic therapy is the only option. The effect of symptomatic therapy are not well known. We present clinical course, diagnosis
Lu J, Huang Y.
europepmc +2 more sources
Clinical Value of Magnetic Resonance Spectroscopy in the Initial Evaluation of Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes [PDF]
Annals of Child Neurology, 2021 Purpose Magnetic resonance spectroscopy (MRS) is a diagnostic tool used to detect abnormal accumulation of lactate in the brain parenchyma in various metabolic diseases.
Hyunjoo Lee +3 more
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Pathology of Mitochondrial Encephalomyopathies [PDF]
Pediatric Neurology Briefs, 2005 The role of the muscle biopsy, histochemistry, electronmicroscopy, measurement of respiratory chain enzymes, and genetic studies in the diagnosis of mitochondrial cytopathies (MC) is reviewed by researchers at the University of Calgary and Alberta ...
J Gordon Millichap
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Mitochondrial Chronic Progressive External Ophthalmoplegia [PDF]
Brain SciencesBackground: Chronic progressive external ophthalmoplegia (CPEO) is a rare disorder that can be at the forefront of several mitochondrial diseases. This review overviews mitochondrial CPEO encephalomyopathies to enhance accurate recognition and diagnosis ...
Ali Ali, Ali Esmaeil, Raed Behbehani
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Mitochondrial dynamics and inheritance during cell division, development and disease [PDF]
Nature Reviews Molecular Cell Biology, 2014 During cell division, it is critical to properly partition functional sets of organelles to each daughter cell. The partitioning of mitochondria shares some common features with that of other organelles, particularly in the use of interactions with ...
Chan, David C., Mishra, Prashant
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Neuronal intranuclear inclusion disease with recurrent encephalitis [PDF]
BMC NeurologyBackground Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder characterized by eosinophilic intranuclear inclusions in neurons and multiple visceral organs, leading to heterogeneous clinical manifestations.
Chenchen Li +7 more
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VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. [PDF]
Hum Mutat, 2014 Diodato D +19 more
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Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling [PDF]
Brain and BehaviorIntroduction/Aims Mitochondrial encephalomyopathies are multisystem disorders caused by defects in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) syndrome is a rare manifestation ...
Fanjing Zhou +6 more
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