Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.
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ABSTRACT:
SUBMITTER: Emmanuele V
PROVIDER: S-EPMC3639472 | biostudies-literature | 2012 Aug
REPOSITORIES: biostudies-literature
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Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.
Emmanuele Valentina V López Luis C LC Berardo Andres A Naini Ali A Tadesse Saba S Wen Bing B D'Agostino Erin E Solomon Martha M DiMauro Salvatore S Quinzii Catarina C Hirano Michio M
Archives of neurology 20120801 8
Coenzyme Q(10) (CoQ(10)) deficiency has been associated with 5 major clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. Primary CoQ(10) deficiency is due to defects in CoQ(10) biosynthesis, while secondary forms are due to other causes. A review of 149 cases, including our cohort of 76 patients, confirms that CoQ(10) deficiency is a clinically and genetically heterogeneous syndrome that mainly begins in childhood ...[more]
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