CoQ10 deficiency diseases in adults

被引：50

作者：

Quinzii, Catarina M. ^{[1
]}

Hirano, Michio ^{[1
]}

DiMauro, Salvatore ^{[1
]}

机构：

[1] Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10032 USA

来源：

MITOCHONDRION | 2007年 / 7卷

关键词：

coenzyme Q; deficiency; mitochondria; CoQ adult;

D O I：

10.1016/j.mito.2007.03.004

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Deficiency of Coenzyme Q(10) (CoQ(10)) in muscle has been associated with a spectrum of diseases including infantile-onset multi-systemic diseases, encephalomyopathies with recurrent myobinuria, cerebellar ataxia, and pure myopathy. CoQ(10) deficiency predominantly affects children, but patients have presented with adult-onset cerebellar ataxia or myopathy. Mutations in the CoQ(10) biosynthetic genes, COQ2 and PDSS2, have been identified in children with the infantile form of CoQ(10) deficiency; however, the molecular genetic bases of adult-onset CoQ(10) deficiency remains undefined. (c) 2007 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

引用

页码：S122 / S126

页数：5

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