Linked Life Data

18484665

Source:http://linkedlifedata.com/resource/pubmed/id/18484665

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2010-7-5
pubmed:abstractText
A disorder of mitochondrial energy metabolism may be missed in children with a very mild phenotype. Here, we described a patient with a moderate mental retardation and a mild exercise intolerance. This child harboured a mtDNA transition (m.6955G>A) in the subunit I of the cytochrome oxidase (MT-CO1) that fulfils most of the requirements to be pathologic. Despite this subunit is the second longest polypeptide encoded in the mtDNA, only one other missense mutation associated with a myopathy has been described. This suggests that we are missing other phenotypes and that the mitochondrial pathology field is broader that previously thought.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1098-1004
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
29
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
E112-22
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).
pubmed:affiliation
Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, 50013-Zaragoza.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't