Linked Life Data

14735584

Source:http://linkedlifedata.com/resource/pubmed/id/14735584

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2004-1-21
pubmed:abstractText
Spasticity and dystonia have been associated with mitochondrial (mt) DNA mutations at A11696G, G14459A, and T14596A. We describe the clinical features and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine (G) --> adenine (A) transition. The maternally inherited Leber hereditary optic neuropathy (LHON) phenotypes showed extreme clinical variability and the only screening test that was abnormal in the patient with spasticity/dystonia was a high T2 signal in the putamen bilaterally. The male patient in the second pedigree showed features of optic neuropathy without spasticity/dystonia. These results further support that the 14,459 G --> A transition mutation is causally related to LHON and spasticity/dystonia.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
Copyright 2003 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
124A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
372-6
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation.
pubmed:affiliation
Department of Neurology, 4U4, McMaster University, 1200 Main Street W., Hamilton, Ontario, Canada L8N 3Z5. tarnopol@mcmaster.ca
pubmed:publicationType
Journal Article, Case Reports