Linked Life Data

16338876

Source:http://linkedlifedata.com/resource/pubmed/id/16338876

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2005-12-12
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1551-3815
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
149-53
pubmed:dateRevised
2008-10-1
pubmed:meshHeading
pubmed:articleTitle
Cytochrome c oxidase deficiency in a child with isolated myopathy.
pubmed:affiliation
Fatih University Faculty of Medicine, Department of Pediatrics, Ankara, Turkey. ahmetkaradag@gmail.com
pubmed:publicationType
Journal Article, Case Reports