Linked Life Data

12207935

Source:http://linkedlifedata.com/resource/pubmed/id/12207935

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7-8
pubmed:dateCreated
2002-9-4
pubmed:abstractText
We describe a novel mutation in the mitochondrial tRNA(Ile) gene, an A to G transition at nucleotide position 4267, in a 37-year-old woman with myopathy, ataxia and sensorineural hearing loss. The A4267G mutation was heteroplasmic in several of the proband's tissues and single fibre analysis revealed significantly higher levels of mutated mitochondrial DNA in cytochrome c oxidase-deficient fibres than cytochrome c oxidase-positive fibres. It is predicted to disrupt a highly conserved base pair within the aminoacyl acceptor stem of the tRNA causing functional impairment, and as such fulfils all the accepted criteria for pathogenicity. Moreover, we were unable to detect the A4267G mutation in lymphocytes, buccal epithelia and hair of the patient's mother and two siblings, implying that the A4267G transition represents a sporadic, germline mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0960-8966
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
659-664
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.
pubmed:affiliation
Department of Neurology, The Medical School, University of Newcastle upon Tyne, Framlington Place, NE2 4HH, Newcastle upon Tyne, UK. r.w.taylor@newcastle.ac.uk
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't