Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition

被引：146

作者：

Salviati, L

Sacconi, S

Murer, L

Zacchello, G

Franceschini, L

Laverda, AM

Basso, G

Quinzii, C

Angelini, C

Hirano, M

Naini, B

Navas, P

DiMauro, S

Montini, G

机构：

[1] Univ Padua, Dipartimento Pediat, Serv Genet Clin & Epidemiol, I-35128 Padua, Italy

[2] Univ Padua, Dept Neurosci, I-35128 Padua, Italy

[3] Federat Malad Neuromusculaires, Nice, France

[4] INSERM, U638, Nice, France

[5] Columbia Univ, Dept Neurol, New York, NY USA

[6] Univ Pablo Olavide, Lab Andaluz Biol Desarrollo, Seville, Spain

来源：

NEUROLOGY | 2005年 / 65卷 / 04期

关键词：

D O I：

10.1212/01.wnl.0000172859.55579.a7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：606 / 608

页数：3

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