نتایج جستجو برای: mitochondrial myopathies
تعداد نتایج: 134607 فیلتر نتایج به سال:
The human mitochondrial genome encodes 22 tRNAs interspersed among the two rRNAs and 11 mRNAs, often without spacers, suggesting that tRNAs must be efficiently excised. Numerous maternally transmitted diseases and syndromes arise from mutations in mitochondrial tRNAs, likely due to defect(s) in tRNA metabolism. We have systematically explored the effect of pathogenic mutations on tRNA(Ile) prec...
http://www.e-acn.org pISSN 2508-691X eISSN 2508-6960 Copyright © 2017 The Korean Society of Clinical Neurophysiology This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the origina...
RATIONALE Mitochondrial reactive oxygen species (ROS) are implicated in aging, chronic degenerative neurological syndromes, and myopathies. On the basis of free radical hypothesis, dietary, pharmacological, and genetic ROS suppression has been tested to minimize tissue damage, with remarkable therapeutic efficacy. The effects of mitochondrial-specific ROS suppression in primary mitophagic dysfu...
The field of mitochondrial medicine is rapidly transitioning from preclinical observation to clinical application. Translation of promising data obtained in mouse models is not always straightforward, however. Building on their own work showing that a ketogenic diet induces mitochondrial biogenesis and delays the onset of disease in the Deletor mouse, Ahola et al administered modified Atkins di...
At present there are limited therapeutic interventions for patients with mitochondrial myopathies. Exercise training has been suggested as an approach to improve physical capacity and quality of life but it is uncertain whether it offers a safe and effective treatment for patients with heteroplasmic mitochondrial DNA (mtDNA) mutations. The objectives of this study were to assess the effects of ...
Pathogenic mitochondrial tRNA (mt-tRNA) gene mutations represent a prominent cause of primary mitochondrial DNA (mtDNA)-related disease despite accounting for only 5%-10% of the mitochondrial genome.(1,2) Although some common mt-tRNA mutations, such as the m.3243A>G mutation, exist, the majority are rare and have been reported in only a small number of cases.(3) The MT-TP gene, encoding mt-tRNA...
Background Side alternating vibration training (SAVT) is a mechanical oscillation using a vibrating platform that simulates exercise. We hypothesized that patients with mitochondrial myopathies, who experience muscle weakness, may see an improvement in muscle power with SAVT. Methods Patients with mitochondrial disease started either a treatment (SAVT) or control phase (standing without vibra...
Neurophysiological investigations (EEG, ERG, VEP) were carried out in 13 patients with proven "mitochondrial myopathy". There were nine girls and four boys. Varied abnormalities were seen in the EEGs of all cases, and in one patient unusual repetitive bursts of irregular slow waves and spikes were observed. The ERG was abnormal in five of the 12 cases tested, while the VEP (flash) was definitel...
A case of carnitine palmitoyl transferase deficiency presenting in a 72 year old woman with the clinical picture of ophthalmoplegia plus other muscle weakness is reported. Histological and ultrastructural examination showed the features of a mitochondrial myopathy.
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