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Träfflista för sökning "(WFRF:(Ali A)) lar1:(gu) srt2:(2005-2009)"

Sökning: (WFRF:(Ali A)) lar1:(gu) > (2005-2009)

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  • Horvath, Rita, et al. (författare)
  • Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
  • 2009
  • Ingår i: Brain : a journal of neurology. - : Oxford University Press (OUP). - 1460-2156. ; 132:Pt 11, s. 3165-74
  • Tidskriftsartikel (refereegranskat)abstract
    • Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency myopathy' is an exception because it shows spontaneous recovery if infants survive the first months of life. Current investigations cannot distinguish those with a good prognosis from those with terminal disease, making it very difficult to decide when to continue intensive supportive care. Here we define the principal molecular basis of the disorder by identifying a maternally inherited, homoplasmic m.14674T>C mt-tRNA(Glu) mutation in 17 patients from 12 families. Our results provide functional evidence for the pathogenicity of the mutation and show that tissue-specific mechanisms downstream of tRNA(Glu) may explain the spontaneous recovery. This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis.
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  • 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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