Linked Life Data

18396044

Source:http://linkedlifedata.com/resource/pubmed/id/18396044

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2008-4-28
pubmed:abstractText
The Twinkle gene product is important for mtDNA replication. Only a few reports have investigated the clinically effect of mutations in this gene. We describe a new de novo mutation (1110C>A) in the PEO1 gene in a mother and her two sons. The mother had progressive ophthalmoplegia, limb weakness, sensory neuropathy, elevated resting plasma lactate, glucose intolerance and impaired VO2max while her sons only had mild ptosis. In accordance with the clinical presentation, abnormal morphological findings in muscle and multiple deletions and depletion of mtDNA in muscle were more pronounced in the proband than in her sons.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0960-8966
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
306-9
pubmed:dateRevised
2010-6-2
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Phenotype and clinical course in a family with a new de novo Twinkle gene mutation.
pubmed:affiliation
Department of Neurology, The Neuromuscular Research Unit and The Copenhagen Muscle Research Centre, Section 7611, University of Copenhagen, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark. Dysgaard@rh.dk
pubmed:publicationType
Journal Article, Case Reports