نتایج جستجو برای: mitochondrial myopathy
تعداد نتایج: 143464 فیلتر نتایج به سال:
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...
The authors read with interest the article by Kurt et al about 2 unrelated, pediatric patients carrying the mutation m.14459G>A in the ND6 gene, which manifested clinically as Leigh-like syndrome with generalized dystonia. The authors have the following comments and concerns. The authors do not agree with the statement in the Introduction that most of the mutations affecting subunits of complex...
Abstract At the neuromuscular junction (NMJ), postsynaptic ionotropic acetylcholine receptors (AChRs) transduce a chemical signal released from cholinergic motor neuron into an electrical to induce muscle contraction. To identify regulators of function, we conducted genome-wide RNAi screen for genes required proper response levamisole, pharmacological agonist L-AChRs at Caenorhabditis elegans N...
Mitochondrial myopathy patients (MMPs) have impaired oxidative phosphorylation and exercise intolerance. Endurance training of MMPs improves exercise tolerance, but also increases mutational load. To assess the regulation of mitochondrial content in MMPs, we measured proteins involved in 1) biogenesis, 2) oxidative stress, and 3) apoptosis in MMPs and healthy controls (HCs) both before and afte...
In this brief review, I have highlighted recent advances in several areas of mitochondrial medicine, including mtDNA-related diseases, mendelian mitochondrial encephalomyopathies, and therapy. The pathogenic mechanisms of mtDNA mutations, especially those affecting mitochondrial protein synthesis, are still largely unknown. The pathogenicity of homoplasmic mtDNA mutations has become evident but...
Recessive mutations in TK2 cause a severe mitochondrial DNA depletion syndrome (MDS),(1) characterized by severe myopathy from early infancy. Recent reports have suggested a wider clinical spectrum including encephalomyopathic form.(1,2) We report a patient with infantile-onset fatal encephalomyopathy presenting with extreme muscle fiber immaturity.
Main Outcome Measure: Identification of the A3302G mutation by DNA sequencing. Results: All 4 patients had an adult-onset progressive mitochondrial myopathy with proximal muscle weakness, resulting in exercise intolerance. In 2 unrelated patients, upper limb reflexes were absent with preservation of at least some lower limb reflexes. Other features including hearing loss, recurrent headaches, p...
Mitochondrial myopathy is a rare cause of dyspnoea and respiratory failure, usually presenting in infancy. We describe a 27 yr old woman with a partial cytochrome c oxidase enzyme deficiency causing respiratory muscle weakness and respiratory failure. The onset was acute, with no preceding respiratory symptoms. The patient was successfully treated with bilevel positive airway pressure therapy.
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