Linked Life Data

12923868

Source:http://linkedlifedata.com/resource/pubmed/id/12923868

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2003-8-18
pubmed:abstractText
We report two brothers who suffer from infantile onset optic atrophy and blindness. MRI of the brain demonstrated periventricular white matter changes in both children. Neurological and developmental examination are normal. Extensive laboratory investigations rule out metabolic disorders that can be associated with optic atrophy. No mutations associated with Leber hereditary optic neuropathy (LHON) were found and sequencing of the mitochondrially encoded complex 1 subunits was normal. We suggest that this family represents either an atypical variant of LHON with a yet undescribed mtDNA mutation or a new syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
Copyright 2003 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
121A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
263-5
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Familial optic atrophy with white matter changes.
pubmed:affiliation
Institute of Clinical Genetics, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.
pubmed:publicationType
Journal Article, Case Reports