Linked Life Data

18175083

Source:http://linkedlifedata.com/resource/pubmed/id/18175083

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2008-1-4
pubmed:abstractText
Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently than previously thought; moreover, when compatible with a proper clinical phenotype, OPMD might be included in the differential diagnosis even in the absence of a positive family history.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1590-1874
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
339-41
pubmed:dateRevised
2008-10-23
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report.
pubmed:affiliation
Department of Neurology, University of Milano-Bicocca S. Gerardo Hospital, Via Pergolesi 33, I-20052, Monza (MI), Italy. lucio.tremolizzo@unimib.it
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't