Linked Life Data

19618438

Source:http://linkedlifedata.com/resource/pubmed/id/19618438

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2009-9-22
pubmed:abstractText
We report the clinical, histochemical, and molecular genetic findings in a patient with progressive mitochondrial cytopathy due to the m.8313G>A point mutation in the mitochondrial tRNA(Lys) (MTTK) gene. The clinical features in this case are severe, including short stature, myopathy, peripheral neuropathy, and osteoporosis, while extensive analysis of maternal relatives indicate that the mutation has arisen de novo and was not maternally inherited. This report of a second case, together with single muscle fiber mutation analysis that shows clear segregation of mutation load with cytochrome c oxidase deficiency, confirms that the mutation is pathologic.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0148-639X
pubmed:author
pubmed:issnType
Print
pubmed:volume
40
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
648-51
pubmed:dateRevised
2011-1-5
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation.
pubmed:affiliation
Department of Neurology, St. Vincent's University Hospital, Dublin 4, Ireland. killian.orourke@gmail.com
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't