|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
9437
|
|
pubmed:dateCreated |
2004-9-7
|
|
pubmed:abstractText |
Mutations in the gene encoding mitochondrial DNA polymerase gamma (POLG), the enzyme that synthesises mitochondrial DNA (mtDNA), have been associated with a mitochondrial disease-autosomal dominant or recessive progressive external ophthalmoplegia-and multiple deletions of mtDNA. Mitochondrial dysfunction is also suspected to participate in the pathogenesis of Parkinson's disease. However, no primary gene defects affecting mitochondrial proteins causing mendelian transmission of parkinsonism have been characterised. We aimed to analyse the gene sequence of POLG in patients with progressive external ophthalmoplegia and their healthy relatives.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
1474-547X
|
|
pubmed:author |
pubmed-author:ChalmersRichard MRM,
pubmed-author:KaukonenJyrki AJA,
pubmed-author:LuomaPetriP,
pubmed-author:MajamaaKariK,
pubmed-author:MelbergAtleA,
pubmed-author:NupponenNina NNN,
pubmed-author:OldforsAndersA,
pubmed-author:PeltonenLeenaL,
pubmed-author:RautakorpiIlkkaI,
pubmed-author:RinneJuha OJO,
pubmed-author:SomerHannuH,
pubmed-author:SuomalainenAnuA
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
364
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
875-82
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:15351195-Adult,
pubmed-meshheading:15351195-Age of Onset,
pubmed-meshheading:15351195-Brain,
pubmed-meshheading:15351195-DNA, Mitochondrial,
pubmed-meshheading:15351195-DNA-Directed DNA Polymerase,
pubmed-meshheading:15351195-Female,
pubmed-meshheading:15351195-Humans,
pubmed-meshheading:15351195-Male,
pubmed-meshheading:15351195-Menopause, Premature,
pubmed-meshheading:15351195-Middle Aged,
pubmed-meshheading:15351195-Mutation,
pubmed-meshheading:15351195-Ophthalmoplegia, Chronic Progressive External,
pubmed-meshheading:15351195-Parkinsonian Disorders,
pubmed-meshheading:15351195-Pedigree,
pubmed-meshheading:15351195-Sequence Analysis, DNA,
pubmed-meshheading:15351195-Tomography, Emission-Computed
|
|
pubmed:articleTitle |
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
|
|
pubmed:affiliation |
Department of Neurology and Programme of Neurosciences, Biomedicum-Helsinki, Helsinki University, and Helsinki University Central Hospital, Helsinki, Finland.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
