Linked Life Data

16817213

Source:http://linkedlifedata.com/resource/pubmed/id/16817213

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2006-9-27
pubmed:abstractText
Mutations in the dysferlin gene cause limb-girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0885-3185
pubmed:author
pubmed:copyrightInfo
(c) 2006 Movement Disorder Society.
pubmed:issnType
Print
pubmed:volume
21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1513-5
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
A case of dysferlinopathy presenting choreic movements.
pubmed:affiliation
Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't