Document Detail

A case of mitochondrial myopathy, lactic acidosis and complex I deficiency.
MedLine Citation:
PMID:  2125637     Owner:  NLM     Status:  MEDLINE    
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.
L Bet; N Bresolin; M Moggio; G Meola; A Prelle; A H Schapira; T Binzoni; A Chomyn; F Fortunato; P Cerretelli
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of neurology     Volume:  237     ISSN:  0340-5354     ISO Abbreviation:  J. Neurol.     Publication Date:  1990 Nov 
Date Detail:
Created Date:  1991-02-25     Completed Date:  1991-02-25     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  399-404     Citation Subset:  IM    
Institute of Clinical Neurology, University of Milan, Italy.
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MeSH Terms
Acidosis, Lactic / etiology*
Adenosine Triphosphate / metabolism
Cells, Cultured
DNA, Mitochondrial / analysis
Enzyme-Linked Immunosorbent Assay
Exercise / physiology
Magnetic Resonance Spectroscopy
Mitochondria, Muscle* / ultrastructure
Muscles / metabolism,  ultrastructure
Muscular Diseases / genetics,  metabolism*,  pathology
NAD(P)H Dehydrogenase (Quinone)
Oxygen Consumption / physiology
Phosphocreatine / metabolism
Quinone Reductases / deficiency*
Reg. No./Substance:
0/DNA, Mitochondrial; 56-65-5/Adenosine Triphosphate; 67-07-2/Phosphocreatine; EC Dehydrogenase (Quinone); EC 1.6.99.-/Quinone Reductases

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