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Closed Access item 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, Ubiquinone
Issue Date:3-Dec-2008
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
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