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Título : Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report
Autor : Montero, Raquel, Sánchez-Alcázar, José Antonio, Gallardo, M. Esther, Bornstein, Belén, Rivera, Henry, Martín, Miguel A., Navas, Plácido, Artuch, Rafael
Palabras clave : Mitocondrial DNA depletion
Coenzyme Q10 deficiency
Pediatric patients
Mitochondrial respiratory chain
Fecha de publicación : 3-Dec-2008
Editor: Elsevier
Resumen: [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.
Descripción : 4 páginas, 1 figura, 1 tabla.-- et al.
Versión del editor:
ISSN: 0009-9120
DOI: 10.1016/j.clinbiochem.2008.10.027
Citación : Clinical Biochemistry 42(7-8): 732-735 (2009)
Referencias: PMID: 19094978
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