Pathomechanisms in coenzyme q10-deficient human fibroblasts.
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ABSTRACT:
SUBMITTER: Lopez LC
PROVIDER: S-EPMC4112524 | biostudies-literature | 2014 Jul
REPOSITORIES: biostudies-literature
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Pathomechanisms in coenzyme q10-deficient human fibroblasts.
López Luis C LC Luna-Sánchez Marta M García-Corzo Laura L Quinzii Catarina M CM Hirano Michio M
Molecular syndromology 20140701 3-4
Primary coenzyme Q10 (CoQ10) deficiency is a rare mitochondrial disorder associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) steroid-resistant nephrotic syndrome. Growth retardation, deafness and hearing loss have also been described in CoQ10-deficient patients. This heterogeneity in the clinical presentations suggests that multiple pathomechanisms may exist. To investigate the bioch ...[more]
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