Clinical presentations of coenzyme q10 deficiency syndrome.
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ABSTRACT:
SUBMITTER: Quinzii CM
PROVIDER: S-EPMC4112523 | biostudies-literature | 2014 Jul
REPOSITORIES: biostudies-literature
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Clinical presentations of coenzyme q10 deficiency syndrome.
Quinzii Catarina M CM Emmanuele Valentina V Hirano Michio M
Molecular syndromology 20140701 3-4
Coenzyme Q10 (CoQ10) deficiency is a clinically and genetically heterogeneous syndrome which has been associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) nephropathy, (4) cerebellar ataxia, and (5) isolated myopathy. Of these phenotypes, cerebellar ataxia and syndromic or isolated nephrotic syndrome are the most common. CoQ10 deficiency predominantly presents in childhood. To date, causative mutations have been identified in a small ...[more]
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