CYTOCHROME C OXIDASE DEFICIENCY IN A CHILD WITH ISOLATED MYOPATHY

Cytochrome c oxidase (COX) deficiency is the most commonly recognized respiratory chain defect in childhood. The disease is clinically heterogeneous with phenotypes including Leigh syndrome, hepatic failure and myopathies. COX deficiency has been associated with mitochondrial DNA mutations in COX I,...

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Bibliographic Details
Published in:Fetal and pediatric pathology 2005-05, Vol.24 (3), p.149-153
Main Authors: Karadag, Ahmet, Avci, Zekai, Catal, Ferhat, Odemis, Ender
Format: Article
Language:English
Subjects:
child
Child, Preschool
cytochrome c oxidase deficiency
Cytochrome-c Oxidase Deficiency - complications
Cytochrome-c Oxidase Deficiency - drug therapy
Cytochrome-c Oxidase Deficiency - pathology
Female
Humans
isolated myopathy
Muscle Hypotonia - drug therapy
Muscle Hypotonia - etiology
Muscle Hypotonia - pathology
Ubiquinone - therapeutic use
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Summary:Cytochrome c oxidase (COX) deficiency is the most commonly recognized respiratory chain defect in childhood. The disease is clinically heterogeneous with phenotypes including Leigh syndrome, hepatic failure and myopathies. COX deficiency has been associated with mitochondrial DNA mutations in COX I, II, and III with large-scale deletions of the mitochondrial genome and with point mutations in mitochondrial tRNA genes. Here we report on a 3.5-year-old girl with a rare type of isolated myopathy due to COX deficiency.
ISSN:1551-3815
1551-3823
DOI:10.1080/15227950500304218