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  • Title: A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.
    Author: Mayr JA, Moslemi AR, Förster H, Kamper A, Idriceanu C, Muss W, Huemer M, Oldfors A, Sperl W.
    Journal: Neuromuscul Disord; 2006 Dec; 16(12):874-7. PubMed ID: 17056256.
    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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