نتایج جستجو برای: sayre
تعداد نتایج: 631 فیلتر نتایج به سال:
Mitochondrial mutations, an important cause of incurable human neuromuscular diseases, are mostly heteroplasmic: mutated mitochondrial DNA is present in cells simultaneously with wild-type genomes, the pathogenic threshold being generally >70% of mutant mtDNA. We studied whether heteroplasmy level could be decreased by specifically designed oligoribonucleotides, targeted into mitochondria by th...
We read the article by Leal et al. with interest about a 17-year-old male with Kearns–Sayre syndrome (KSS), diagnosed upon the clinical presentation, instrumental findings and the muscle biopsy findings [1]. Despite some peculiarities of the phenotype, the presentation at onset was mild and the further course uneventful. We have the following comments and concerns. The main disadvantage of this...
Mary Fran Hazinski, Co-Chair*; Jerry P. Nolan, Co-Chair*; John E. Billi; Bernd W. Böttiger; Leo Bossaert; Allan R. de Caen; Charles D. Deakin; Saul Drajer; Brian Eigel; Robert W. Hickey; Ian Jacobs; Monica E. Kleinman; Walter Kloeck; Rudolph W. Koster; Swee Han Lim; Mary E. Mancini; William H. Montgomery; Peter T. Morley; Laurie J. Morrison; Vinay M. Nadkarni; Robert E. O’Connor; Kazuo Okada; J...
School of Environmental Sciences, University of East Anglia, Norwich NR4 7TJ, UK Centre for Environment, Fisheries and Aquaculture Science, Pakefield Road, Lowestoft, Suffolk NR33 0HT, UK Geophysical Fluid Dynamic Laboratory, National Oceanic and Atmospheric Administration, 201 Forrestal Road, Princeton, NJ 08540-6649, USA Atmospheric and Oceanic Sciences Programme, Princeton University, 300 Fo...
A case of mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, cerebellar ataxia and high-tone hearing loss is presented. There was no ptosis or ophthalmoplegia. Endocrine investigations showed a defect in hypothalamic function which was a likely cause of infertility. The case is compared with previously reported examples of mitochondrial myopathy with myoclonic epilepsy, and co...
We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragg...
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