Linked Life Data

15390032

Source:http://linkedlifedata.com/resource/pubmed/id/15390032

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2005-2-22
pubmed:abstractText
Neuroferritinopathy is a recently recognized autosomal dominant disorder that results in abnormal aggregates of iron and ferritin in the brain due to a mutation in the ferritin light chain gene on chromosome 19q13.3. We present the clinical details of a patient with adult-onset generalized dystonia associated with this mutation. Neuroferritinopathy appears to be a rare disorder; hence, there is a need to report new cases to further our understanding of the clinical phenotype, diagnostic challenges, the course of the condition and imaging characteristics.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0885-3185
pubmed:author
pubmed:copyrightInfo
Copyright 2004 Movement Disorder Society.
pubmed:issnType
Print
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
243-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene.
pubmed:affiliation
Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom.
pubmed:publicationType
Journal Article