Linked Life Data

9299504

Source:http://linkedlifedata.com/resource/pubmed/id/9299504

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1997-10-16
pubmed:abstractText
We found a novel maternally inherited T3308C mutation in the mtDNA ND1 gene in a patient with bilateral striatal necrosis and stroke-like episodes. Muscle biopsy from the proband showed mitochondrial proliferation in blood vessels and normal respiratory chain activities. The mutation, which was not present in 100 normal controls or in 30 patients with mitochondrial disease, was heteroplasmic in both muscle and blood of the proband and in blood from her asymptomatic mother. This mutation results in a Met --> Thr change at the highly conserved amino acid position 1. The T3308C mutation may alter the hydrophobicity and antigenicity of the N-terminal peptide of ND1.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0006-291X
pubmed:author
pubmed:copyrightInfo
Copyright 1997 Academic Press.
pubmed:issnType
Print
pubmed:day
18
pubmed:volume
238
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
323-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene.
pubmed:affiliation
Centro de Investigación, Hospital Universitario "12 de Octubre,", Madrid, Spain.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't