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Mitochondrial encephalomyopathies [PDF]
Journal of Neuropathology & Experimental Neurology, 2003 Mitochondrial encephalomyopathies are diseases caused by defective oxidative phosphorylation (OXPHOS), and affect the nervous system and/or skeletal muscle. They have emerged as a major entity among the neurometabolic diseases of childhood with an incidence of 1 in 11,000 children, and also have a high prevalence in adults.
Anders, Oldfors, Már, Tulinius
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Small mitochondrial-targeted RNAs modulate endogenous mitochondrial protein expression in vivo
Neurobiology of Disease, 2014 Endogenous mitochondrial genes encode critical oxidative phosphorylation components and their mutation results in a set of disorders known collectively as mitochondrial encephalomyopathies. There is intensive interest in modulating mitochondrial function
Atif Towheed +4 more
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Mitochondrial myopathy and myoclonic epilepsy
Arquivos de Neuro-Psiquiatria, 1990 The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one
Walter O. Arruda +7 more
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BioMedica, 2020 Background and Objective: Mitochondrial encephalomyopathies represent a clinically heterogeneous group of disorders resulting from abnormal mitochondrial function.
Hai-ping Xia +5 more
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Kearns-Sayre syndrome: An unusual ophthalmic presentation
Oman Journal of Ophthalmology, 2012 Kearns-Sayre syndrome (KSS) belongs to the group of neuromuscular disorders known as mitochondrial encephalomyopathies. It has characteristic syndromal features, which include: chronic progressive external ophthalmoplegia, bilateral atypical pigmentary ...
Syed S Ahmad, Shuaibah A Ghani
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Disease network data for the pesticide fipronil in rat dopamine cells
Data in Brief, 2021 Transcriptome data were collected in rat dopamine cells exposed to fipronil for 24 h using microarray analysis. Fipronil is a phenylpyrazole pesticide that acts to inhibit gamma-aminobutyric acid (GABA), blocking inhibitory synaptic transmission in the ...
Christopher L. Souders II +5 more
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Вопросы современной педиатрии, 2016 Leukoencephalopathy with predominant lesion of the brain stem, spinal cord and high blood lactate in the MR spectroscopy is a hereditary disease characterized by slowly progressing cerebellar, pyramidal disorders, disorders involving the lesion of ...
Ye. P. Kolesnikova +4 more
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Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia
Frontiers in Neurology, 2020 Mitochondrial chronic progressive external ophthalmoplegia (CPEO) is a major manifestation of human mitochondrial encephalomyopathies. Previous studies have shown cognitive deficits in patients with mitochondrial diseases.
Guanyu Zhang +4 more
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Mitochondrial Chronic Progressive External Ophthalmoplegia
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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Neurobiology of Disease, 1997 Mitochondrial encephalomyopathies arise from mutations in the mitochondrial or nuclear genome and result in defective energy metabolism. Investigation of cellular pathophysiology in these disorders has been limited to nonneuronal explant cultures such as
Shawn D. Handran +3 more
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