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A case of mitochondrial myopathy, lactic acidosis and complex I deficiency.
J Neurol. 1990 Nov; 237(7):399-404.JN

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.

Authors+Show Affiliations

Institute of Clinical Neurology, University of Milan, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

2125637

Citation

Bet, L, et al. "A Case of Mitochondrial Myopathy, Lactic Acidosis and Complex I Deficiency." Journal of Neurology, vol. 237, no. 7, 1990, pp. 399-404.
Bet L, Bresolin N, Moggio M, et al. A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. J Neurol. 1990;237(7):399-404.
Bet, L., Bresolin, N., Moggio, M., Meola, G., Prelle, A., Schapira, A. H., Binzoni, T., Chomyn, A., Fortunato, F., & Cerretelli, P. (1990). A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. Journal of Neurology, 237(7), 399-404.
Bet L, et al. A Case of Mitochondrial Myopathy, Lactic Acidosis and Complex I Deficiency. J Neurol. 1990;237(7):399-404. PubMed PMID: 2125637.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. A1 - Bet,L, AU - Bresolin,N, AU - Moggio,M, AU - Meola,G, AU - Prelle,A, AU - Schapira,A H, AU - Binzoni,T, AU - Chomyn,A, AU - Fortunato,F, AU - Cerretelli,P, PY - 1990/11/1/pubmed PY - 1990/11/1/medline PY - 1990/11/1/entrez SP - 399 EP - 404 JF - Journal of neurology JO - J. Neurol. VL - 237 IS - 7 N2 - 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. SN - 0340-5354 UR - https://www.unboundmedicine.com/medline/citation/2125637/A_case_of_mitochondrial_myopathy_lactic_acidosis_and_complex_I_deficiency_ L2 - http://www.diseaseinfosearch.org/result/4071 DB - PRIME DP - Unbound Medicine ER -