| Literature DB >> 2125637 |
L Bet1, N Bresolin, M Moggio, G Meola, A Prelle, A H Schapira, T Binzoni, A Chomyn, F Fortunato, P Cerretelli.
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.Entities:
Mesh：
Substances：
Year: 1990 PMID： 2125637 DOI： 10.1007/bf00314729
Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849