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Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/40654
Title: Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report
Authors: Montero, Raquel; Sánchez-Alcázar, José Antonio; Gallardo, M. Esther ; Bornstein, Belén ; Rivera, Henry; Martín, Miguel A.; Navas, Plácido; Artuch, Rafael
Keywords: Mitocondrial DNA depletion
Coenzyme Q10 deficiency
Pediatric patients
Mitochondrial respiratory chain
Issue Date: 3-Dec-2008
Publisher: Elsevier
Citation: Clinical Biochemistry 42(7-8): 732-735 (2009)
Abstract: [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 Q10 (CoQ10) status and quantify mitochondrial DNA. [Results]: Decreased CoQ10 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 CoQ10 deficiency in our patient.
Description: 4 páginas, 1 figura, 1 tabla.-- et al.
Publisher version (URL): http://dx.doi.org/10.1016/j.clinbiochem.2008.10.027
URI: http://hdl.handle.net/10261/40654
DOI: 10.1016/j.clinbiochem.2008.10.027
ISSN: 0009-9120
References: PMID: 19094978
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