Linked Life Data

19470628

Source:http://linkedlifedata.com/resource/pubmed/id/19470628

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2009-8-6
pubmed:abstractText
The point mutation of 3243A>G mtDNA is the most frequent cause of mitochondrial diabetes, often presenting as the syndrome maternally inherited diabetes and deafness (MIDD). The mutation may also cause myopathy, ataxia, strokes, ophthalmoplegia, epilepsy, and cardiomyopathy in various combinations. Consequently, it is difficult to predict the "phenotypic risk profile" of 3243A>G mutation-positive subjects. The 3243A>G mutation coexists in cells with wild-type mtDNA, a phenomenon called heteroplasmy. The marked variability in mutation loads in different tissues is the main explanation for the different phenotypes associated with this mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1945-7197
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
94
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2872-9
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects.
pubmed:affiliation
Department of Endocrinology, Ribe County Hospital, Esbjerg, Finsensgade 35, Esbjerg, Denmark. anja.frederiksen@ouh.regionsyddanmark.dk
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't