| A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. | |
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MedLine Citation:
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PMID: 2125637 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of neurology Volume: 237 ISSN: 0340-5354 ISO Abbreviation: J. Neurol. Publication Date: 1990 Nov |
Date Detail:
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Created Date: 1991-02-25 Completed Date: 1991-02-25 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0423161 Medline TA: J Neurol Country: GERMANY |
Other Details:
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Languages: eng Pagination: 399-404 Citation Subset: IM |
Affiliation:
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Institute of Clinical Neurology, University of Milan, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acidosis, Lactic
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etiology* Adenosine Triphosphate / metabolism Adult Cells, Cultured DNA, Mitochondrial / analysis Enzyme-Linked Immunosorbent Assay Exercise / physiology Humans Magnetic Resonance Spectroscopy Male Mitochondria, Muscle* / ultrastructure Muscles / metabolism, ultrastructure Muscular Diseases / genetics, metabolism*, pathology NAD(P)H Dehydrogenase (Quinone) Oxygen Consumption / physiology Phosphocreatine / metabolism Quinone Reductases / deficiency* |
| Chemical | |
Reg. No./Substance:
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0/DNA, Mitochondrial; 56-65-5/Adenosine Triphosphate; 67-07-2/Phosphocreatine; EC 1.6.5.2/NAD(P)H Dehydrogenase (Quinone); EC 1.6.99.-/Quinone Reductases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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