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Sökning: WFRF:(Sperl J.) > (2005-2009)

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1.
  • Sperl, W, et al. (författare)
  • Deficiency of mitochondrial ATP synthase of nuclear genetic origin.
  • 2006
  • Ingår i: Neuromuscular disorders : NMD. - : Elsevier BV. - 0960-8966. ; 16:12, s. 821-9
  • Tidskriftsartikel (refereegranskat)abstract
    • We present clinical and laboratory data from 14 cases with an isolated deficiency of the mitochondrial ATP synthase (7-30% of control) caused by nuclear genetic defects. A quantitative decrease of the ATP synthase complex was documented by Blue-Native electrophoresis and Western blotting and was supported by the diminished activity of oligomycin/aurovertin-sensitive ATP hydrolysis in fibroblasts (10 cases), muscle (6 of 7 cases), and liver (one case). All patients had neonatal onset and elevated plasma lactate levels. In 12 patients investigated 3-methyl-glutaconic aciduria was detected. Seven patients died, mostly within the first weeks of life and surviving patients showed psychomotor and various degrees of mental retardation. Eleven patients had hypertrophic cardiomyopathy; other clinical signs included hypotonia, hepatomegaly, facial dysmorphism and microcephaly. This phenotype markedly differs from the severe central nervous system changes of ATP synthase disorders caused by mitochondrial DNA mutations of the ATP6 gene presenting mostly as NARP and MILS.
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4.
  • Mayr, J A, et al. (författare)
  • A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance
  • 2006
  • Ingår i: Neuromuscul Disord. - : Elsevier BV. ; 16:12, s. 874-7
  • Tidskriftsartikel (refereegranskat)abstract
    • We describe a 7-year-old girl who presented with loss of appetite, weakness and excercise intolerance. Enzyme investigation of the respiratory chain in muscle tissue revealed a combined complex I, III and IV deficiency. A novel heteroplasmic G-->A exchange at nucleotide position 14739 was found in the MTTE gene of the tRNA glutamic acid. The mutation load in muscle was 72%, urine sediment 38%, blood 31% and fibroblasts 29% and it correlated with COX-negative fibres. Our patient presented with a predominantly myopathic phenotype. The G14739A mutation is the third reported in the mitochondrial tRNA glutamic acid gene, and it occurred in a sporadic case.
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