Linked Life Data

15304597

Source:http://linkedlifedata.com/resource/pubmed/id/15304597

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2004-8-12
pubmed:abstractText
Lafora disease (LD) is the most common teenage-onset progressive myoclonus epilepsy. It is caused by recessive mutations in the EPM2A or EPM2B genes. The authors describe a family with three affected members with no mutations in either gene. Linkage and haplotype analyses exclude both loci from causative involvement in this family. Therefore, a third LD locus is predicted. Its identification will be a crucial element in the understanding of the biochemical pathway underlying the generation of Lafora bodies and LD.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1526-632X
pubmed:author
pubmed:issnType
Electronic
pubmed:day
10
pubmed:volume
63
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
565-7
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus.
pubmed:affiliation
Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't