Linked Life Data

10669202

Source:http://linkedlifedata.com/resource/pubmed/id/10669202

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2000-2-29
pubmed:abstractText
The T8993G mutation in the mitochondrial DNA adenosine triphosphatase 6 gene represents an important cause of maternally inherited Leigh's syndrome. Reported are the clinical findings and mutational loads in three Portuguese T8993G pedigrees. Polymerase chain reaction-restriction fragment length polymorphism analyses demonstrated the T8993G mutation in a high percentage of tissues from all patients (97% +/- 2.3%), but it was less abundant in the blood from 14 maternal relatives. The disease progressed severely in the probands but did not have the fatal course reported by others. To test whether this prolonged course was related to the presence of a specific, disease-associated haplogroup the origin of the mutational event in Portugal was traced. Haplotype investigation revealed an independent occurrence of the mutation in the three probands. These analyses represent the first molecular characterization of Portuguese patients with Leigh's syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0887-8994
pubmed:author
pubmed:issnType
Print
pubmed:volume
22
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
29-32
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Clinical and molecular studies in three Portuguese mtDNA T8993G families.
pubmed:affiliation
Department of Clinical Biology, Instituto de Genética Médica, Porto, Portugal.
pubmed:publicationType
Journal Article, Case Reports