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Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report

AuthorsMontero, Raquel; Sánchez-Alcázar, José Antonio ; Gallardo, M. Esther ; Bornstein, Belén ; Rivera, Henry; Martín, Miguel A.; Navas, Plácido ; Artuch, Rafael
KeywordsMitocondrial DNA depletion
Coenzyme Q10 deficiency
Pediatric patients
Mitochondrial respiratory chain
Issue Date3-Dec-2008
CitationClinical 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.
Description4 páginas, 1 figura, 1 tabla.-- et al.
Publisher version (URL)http://dx.doi.org/10.1016/j.clinbiochem.2008.10.027
Appears in Collections:(CABD) Artículos
(IIBM) Artículos
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