Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition
Articolo
Data di Pubblicazione:
2005
Citazione:
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition / L. Salviati, S. Sacconi, L. Murer, G. Zacchello, L. Franceschini, A.M. Laverda, G. Basso, C. Quinzii, C. Angelini, M. Hirano, A.B. Naini, P. Navas, S. Dimauro, G. Montini. - In: NEUROLOGY. - ISSN 0028-3878. - 65:4(2005 Aug), pp. 606-608.
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
coenzyme Q(10) deficiency; mitochondrial encephalomyopathy; cerebellar-ataxia
Elenco autori:
L. Salviati, S. Sacconi, L. Murer, G. Zacchello, L. Franceschini, A.M. Laverda, G. Basso, C. Quinzii, C. Angelini, M. Hirano, A.B. Naini, P. Navas, S. Dimauro, G. Montini
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