期刊
MOLECULAR SYNDROMOLOGY
卷 5, 期 3-4, 页码 141-146出版社
KARGER
DOI: 10.1159/000360490
关键词
Cerebellar ataxia; Coenzyme Q(10) deficiency; Encephalomyopathy; Steroid-resistant nephrotic syndrome
资金
- Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) [1R01HD057543, K23HD065871]
- Office of Dietary Supplements (ODS)
- NIH [R01HD056103, U54 NS078059, P01 HD032062]
- Muscular Dystrophy Association grant
- Marriott Mitochondrial Disorder Clinical Research Fund (MMDCRF)
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [R01HD057543, P01HD080642] Funding Source: NIH RePORTER
Coenzyme Q(10) (CoQ(10)) deficiency is a clinically and genetically heterogeneous syndrome which has been associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) nephropathy, (4) cerebellar ataxia, and (5) isolated myopathy. Of these phenotypes, cerebellar ataxia and syndromic or isolated nephrotic syndrome are the most common. CoQ(10) deficiency predominantly presents in childhood. To date, causative mutations have been identified in a small proportion of patients, making it difficult to identify a phenotype-genotype correlation. Identification of CoQ(10) deficiency is important because the disease, in particular muscle symptoms and nephropathy, frequently responds to CoQ(10) supplementation. (C) 2014 S. Karger AG, Basel
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