| Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. | |
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MedLine Citation:
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PMID: 19094978 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVES: To report on a case with a mitochondrial DNA (mtDNA) depletion syndrome. DESIGN AND METHODS: Laboratory studies were done in muscle biopsy and fibroblasts to evaluate coenzyme Q(10) (CoQ(10)) status and quantify mitochondrial DNA. RESULTS: Decreased CoQ(10) values and a 78% of mtDNA depletion were detected in muscle. Mutational studies failed to reveal any pathogenic mutation in nuclear genes related with mtDNA maintenance. CONCLUSIONS: mtDNA depletion syndrome was associated with CoQ(10) deficiency in our patient. |
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Authors:
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Raquel Montero; Jose A Sánchez-Alcázar; Paz Briones; Aleix Navarro-Sastre; Ester Gallardo; Belén Bornstein; Dolores Herrero-Martín; Henry Rivera; Miguel A Martin; Ramón Marti; Angels García-Cazorla; Julio Montoya; Plácido Navas; Rafael Artuch |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2008-12-03 |
Journal Detail:
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Title: Clinical biochemistry Volume: 42 ISSN: 1873-2933 ISO Abbreviation: Clin. Biochem. Publication Date: 2009 May |
Date Detail:
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Created Date: 2009-04-13 Completed Date: 2009-06-12 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0133660 Medline TA: Clin Biochem Country: United States |
Other Details:
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Languages: eng Pagination: 742-5 Citation Subset: IM |
Affiliation:
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Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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DNA, Mitochondrial
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genetics* Female Humans Infant, Newborn Mitochondria, Muscle / genetics Mitochondrial Diseases / etiology*, genetics*, metabolism Muscle, Skeletal / enzymology, pathology Ubiquinone / analogs & derivatives*, deficiency |
| Chemical | |
Reg. No./Substance:
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0/DNA, Mitochondrial; 1339-63-5/Ubiquinone; 303-98-0/coenzyme Q10 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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