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doi: 10.1212/01.wnl.0000172859.55579.a7.
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition
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- PMID: 16116126
- DOI: 10.1212/01.wnl.0000172859.55579.a7
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Case Reports
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition
Neurology.
.
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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