2024-03-28T19:48:24Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/406542021-09-22T12:11:56Zcom_10261_128com_10261_1com_10261_22col_10261_381col_10261_275
2011-10-06T06:48:38Z
urn:hdl:10261/40654
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report
Montero, Raquel
Sánchez-Alcázar, José Antonio
Gallardo, M. Esther
Bornstein, Belén
Rivera, Henry
Martín, Miguel A.
Navas, Plácido
Artuch, Rafael
Mitocondrial DNA depletion
Coenzyme Q10 deficiency
Pediatric patients
Mitochondrial respiratory chain
Ubiquinone
4 páginas, 1 figura, 1 tabla.-- et al.
[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.
2011-10-06T06:48:38Z
2011-10-06T06:48:38Z
2008-12-03
artículo
Clinical Biochemistry 42(7-8): 732-735 (2009)
0009-9120
PMID: 19094978
http://hdl.handle.net/10261/40654
10.1016/j.clinbiochem.2008.10.027
eng
http://dx.doi.org/10.1016/j.clinbiochem.2008.10.027
closedAccess
Elsevier