| Exercise intolerance due to cytochrome b mutation. | |
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MedLine Citation:
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PMID: 20544923 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cytochrome b mutations are rare causes of exercise intolerance. We report an 18-year-old man with exercise intolerance since childhood, resting lactic acidosis, cytochrome c oxidase (COX)-positive ragged-red fibers, and isolated muscle complex III deficiency due to a heteroplasmic m.14849T>C mutation in cytochrome b. We review previously described patients carrying mutations in the same gene. COX-positive ragged-red fibers together with exercise intolerance and lactic acidemia provide a clue for the diagnosis of this rare mitochondrial disorder. |
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Authors:
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Rami Massie; Lee-Jun C Wong; Margherita Milone |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Muscle & nerve Volume: 42 ISSN: 1097-4598 ISO Abbreviation: Muscle Nerve Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-07-01 Completed Date: 2010-07-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7803146 Medline TA: Muscle Nerve Country: United States |
Other Details:
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Languages: eng Pagination: 136-40 Citation Subset: IM |
Affiliation:
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Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acidosis
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metabolism Adolescent Blood Chemical Analysis Cardiomyopathies / genetics, pathology Cytochromes b / genetics* Electron Transport Complex IV / genetics, metabolism Exercise Tolerance / genetics* Humans Male Mitochondria, Muscle / enzymology Mitochondrial Myopathies / genetics*, pathology Mutation / physiology |
| Chemical | |
Reg. No./Substance:
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9035-37-4/Cytochromes b; EC 1.9.3.1/Electron Transport Complex IV |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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