Linked Life Data

15177405

Source:http://linkedlifedata.com/resource/pubmed/id/15177405

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2004-6-4
pubmed:abstractText
Oppenheim's or DYT1 dystonia is a primary dystonia typically presenting in a limb at an early age and usually becoming generalised within 5 years. Over the last decade research into this debilitating disorder has progressed considerably, enabling the identification of a genetic lesion (a 3bp deletion in the DYT1 gene) now widely accepted as the cause of a majority of cases. This case report presents the first molecularly diagnosed pedigree of an Australian family with DYT1 dystonia, which presented as writer's cramp in the 15-year-old proband and two of his cousins.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0967-5868
pubmed:author
pubmed:issnType
Print
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
537-9
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Writer's cramp in an Australian pedigree with DYT1 dystonia.
pubmed:affiliation
Department of Neurology, Flinders Medical Center, South Australia, Australia.
pubmed:publicationType
Journal Article, Case Reports