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  • Title: Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.
    Author: Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, Laverda AM, Basso G, Quinzii C, Angelini C, Hirano M, Naini AB, Navas P, DiMauro S, Montini G.
    Journal: Neurology; 2005 Aug 23; 65(4):606-8. PubMed ID: 16116126.
    Abstract:
    Coenzyme Q10 (CoQ10) deficiency has been associated with various clinical phenotypes, including an infantile multisystem disorder. The authors report a 33-month-old boy who presented with corticosteroid-resistant nephrotic syndrome in whom progressive encephalomyopathy later developed. CoQ10 was decreased both in muscle and in fibroblasts. Oral CoQ10 improved the neurologic picture but not the renal dysfunction.
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