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Current Opinion in Neurology, 1996
Eight years after the first description of mitochondrial DNA mutations in neuromuscular syndromes, the relatively unknown field of mitochondrial disorders has become a major topic not only in neurology, but in various other fields of medicine. Dozens of mitochondrial DNA mutations have been associated with neuromuscular, ophthalmologic, endocrinologic,
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Eight years after the first description of mitochondrial DNA mutations in neuromuscular syndromes, the relatively unknown field of mitochondrial disorders has become a major topic not only in neurology, but in various other fields of medicine. Dozens of mitochondrial DNA mutations have been associated with neuromuscular, ophthalmologic, endocrinologic,
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Ataxia in mitochondrial disorders
2012Mitochondria are subcellular organelles whose major function is to generate energy by coupling through oxidation of nutrient substrates with ATP synthesis, via ADP phosphorylation. This process, known as oxidative phosphorylation, is carried out by the mitochondrial respiratory chain, a pathway consisting of five multi-subunit complexes, four of which ...
Zeviani M., Simonati A., Bindoff L. A.
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Treatment for mitochondrial disorders
2006Mitochondrial respiratory chain disorders are the most prevalent group of inherited neurometabolic diseases. They present with central and peripheral neurological features usually in association with other organ involvement including the eye, the heart, the liver, and kidneys, diabetes mellitus and sensorineural deafness.
P, Chinnery +3 more
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Myoclonus in mitochondrial disorders
Movement Disorders, 2014ABSTRACTMyoclonus is a possible manifestation of mitochondrial disorders, and its presence is considered, in association with epilepsy and the ragged red fibers, pivotal for the syndromic diagnosis of MERRF (myoclonic epilepsy with ragged red fibers). However, its prevalence in mitochondrial diseases is not known.
Mancuso M +28 more
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Mitochondrial disorders and the eye
Survey of Ophthalmology, 2020Mitochondria are cellular organelles that play a key role in energy metabolism and oxidative phosphorylation. Malfunctioning of mitochondria has been implicated as the cause of many disorders with variable inheritance, heterogeneity of systems involved, and varied phenotype.
Eli Kisilevsky +2 more
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Neuroimaging of mitochondrial disorders
Mitochondrion, 2004Mitochondrial disease is frequently a multisystem disorder which often involves the central nervous system. Imaging finding although diverse are characterized by focal lesions with T2 hyperintensity, which may be most evident on FLAIR imaging and often progress to atrophy.
Richard, Haas, Rosalind, Dietrich
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Treatment of mitochondrial disorders
European Journal of Paediatric Neurology, 2010Treatment of mitochondrial disorders (MIDs) is a challenge since there is only symptomatic therapy available and since only few randomized and controlled studies have been carried out, which demonstrate an effect of some of the symptomatic or supportive measures available.
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Mitochondrial disorders and ataxia
Seminars in Pediatric Neurology, 2003Mitochondrial disorders are important causes of progressive ataxia in children. Clinical examination, metabolic studies, imaging studies, muscle biopsies, and mitochondrial DNA studies are required to arrive at a specific diagnosis. There is poor correlation between phenotype and genotype in mitochondrial disorders.
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European Journal of Pediatrics, 2000
Over 100 pathogenic point mutations and 200 deletions, insertions, and rearrangements have been identified since the first mitochondrial DNA mutations were described in 1988. About 60% of the point mutations affect mitochondrial tRNAs, 35% affect polypeptide subunits of the respiratory chain, and 5% affect mitochondrial ribosomal RNAs.
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Over 100 pathogenic point mutations and 200 deletions, insertions, and rearrangements have been identified since the first mitochondrial DNA mutations were described in 1988. About 60% of the point mutations affect mitochondrial tRNAs, 35% affect polypeptide subunits of the respiratory chain, and 5% affect mitochondrial ribosomal RNAs.
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Mitochondrial disorders and epilepsy
Revue Neurologique, 2014Mitochondrial respiratory chain defects (RCD) often exhibit multiorgan involvement, affecting mainly tissues with high-energy requirements such as the brain. Epilepsy is frequent during the evolution of mitochondrial disorders (30%) with different presentation in childhood and adulthood in term of type of epilepsy, of efficacy of treatment and also in ...
I, Desguerre +3 more
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