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Title

A case of mitochondrial myopathy, lactic acidosis and complex I deficiency

Authors
Bet, L
Bresolin, N
Moggio, M
Meola, G
Prelle, A
Schapira, A H
Chomyn, A
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Published in Journal of Neurology. 1990, vol. 237, no. 7, p. 399-404
Abstract A 34-year-old man affected by exercise intolerance, mild proximal weakness and severe lactic acidosis is described. Muscle biopsy revealed mitochondrial abnormalities and an increase of cytochrome c oxidase histochemical reaction. Biochemical investigations on isolated muscle mitochondria as well as polarographic studies revealed a mitochondrial NADH-CoQ reductase (complex I) deficiency. Mitochondrial dysfunction was confirmed by 31P nuclear magnetic resonance spectroscopy. Immunological investigation showed a generalized reduction of all complex I polypeptides. Genetic analysis did not reveal mitochondrial DNA deletions. The biochemical defect was not present in the patient's muscle tissue culture. Metabolic measurements and functional evaluation showed a reduced mechanical efficiency during exercise.
Keywords Acidosis, Lactic/etiologyAdenosine Triphosphate/metabolismAdultCells, CulturedDNA, Mitochondrial/analysisEnzyme-Linked Immunosorbent AssayExercise/physiologyHumansMagnetic Resonance SpectroscopyMaleMitochondria, Muscle/ultrastructureMuscles/metabolism/ultrastructureMuscular Diseases/genetics/metabolism/pathologyNAD(P)H Dehydrogenase (Quinone)Oxygen Consumption/physiologyPhosphocreatine/metabolismQuinone Reductases/deficiency
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PMID: 2125637
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Research group Groupe Binzoni Tiziano (radiologie) (234)
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BET, L et al. A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. In: Journal of Neurology, 1990, vol. 237, n° 7, p. 399-404. https://archive-ouverte.unige.ch/unige:89937

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