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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
1987-2-3
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pubmed:abstractText |
A 6-week-old boy had generalized weakness, requiring assisted ventilation, and lactic acidosis. At 6 months, the lactic acidosis resolved, and the patient started to improve; assisted ventilation was discontinued at 15 months. Muscle biopsies at 4 and 11 months showed accumulation of mitochondria, lipid, and glycogen; cytochrome c oxidase (COX) activity was 11% of the lowest control in the first biopsy and 57% in the second. Immunocytochemistry and immunotitration showed presence of immunologically reactive enzyme protein in both biopsies. This case confirms a previous report of benign infantile myopathy due to reversible COX deficiency. The severe fibrosis in the second biopsy may explain the slower rate of clinical recovery in this child.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0028-3878
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
37
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
64-7
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:3025776-Biopsy,
pubmed-meshheading:3025776-Cytochrome-c Oxidase Deficiency,
pubmed-meshheading:3025776-Histocytochemistry,
pubmed-meshheading:3025776-Humans,
pubmed-meshheading:3025776-Immunoenzyme Techniques,
pubmed-meshheading:3025776-Infant,
pubmed-meshheading:3025776-Male,
pubmed-meshheading:3025776-Mitochondria, Muscle,
pubmed-meshheading:3025776-Muscles,
pubmed-meshheading:3025776-Muscular Diseases
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pubmed:year |
1987
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pubmed:articleTitle |
Benign reversible muscle cytochrome c oxidase deficiency: a second case.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
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