| Childhood mitochondrial myopathy with ophthalmoplegia. | |
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MedLine Citation:
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PMID: 7276984 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 14-year-old boy with mitochondrial myopathy is described, and the findings on muscle biopsy shown. He presented with mild weakness, and severe exercise intolerance; examination showed ptosis, external ophthalmoplegia and severe muscle wasting. There was a possible family history of a similar disorder. Metabolic study demonstrated severe lactic acidosis on exercise. Oxygen consumption was measured and found abnormally high at rest and on exercise. Biochemical study of extracted muscle mitochondria showed decreased respiratory rates with NAD-linked substrates. These and other results suggest the site of the defect to be in the electron transport chain. The possible significance of abnormally high oxygen consumption in the presence of such a defect is discussed. |
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Authors:
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J M Land; J M Hockaday; J T Hughes; B D Ross |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of the neurological sciences Volume: 51 ISSN: 0022-510X ISO Abbreviation: J. Neurol. Sci. Publication Date: 1981 Sep |
Date Detail:
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Created Date: 1981-11-18 Completed Date: 1981-11-18 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 0375403 Medline TA: J Neurol Sci Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 371-82 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Biopsy Humans Lactates / blood Male Mitochondria, Muscle / enzymology, ultrastructure* Muscles / pathology Muscular Atrophy / enzymology, pathology* Ophthalmoplegia / enzymology, pathology* Oxygen Consumption Physical Exertion Pyruvates / blood |
| Chemical | |
Reg. No./Substance:
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0/Lactates; 0/Pyruvates |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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