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August 23, 2005Neurology195 citations

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

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LSLeonardo SalviatiSSSabrina SacconiLMLuisa Murer

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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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Salviati et al. (2005) studied this question.

synapsesocial.com/papers/6a231b1f386be3bc616567f6https://doi.org/10.1212/01.wnl.0000172859.55579.a7
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