UNIGE document Scientific Article
previous document  unige:89937  next document
add to browser collection

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

Bet, L
Bresolin, N
Moggio, M
Meola, G
Prelle, A
Schapira, A H
Chomyn, A
show hidden authors show all authors [1 - 10]
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
PMID: 2125637
Full text
This document has no fulltext available yet, but you can contact its author by using the form below.
Research group Groupe Binzoni Tiziano (radiologie) (234)
(ISO format)
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

329 hits

0 download


Deposited on : 2016-12-07

Export document
Format :
Citation style :