Linked Life Data

12031623

Source:http://linkedlifedata.com/resource/pubmed/id/12031623

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2002-5-28
pubmed:abstractText
Despite numerous reports about dystrophin alterations in Duchenne and Becker muscular dystrophies and dilated cardiomyopathy, the function of dystrophin gene promoters has not yet been completely elucidated. We report the first case of a DNA segment deletion encompassing promoters M and P of the human dystrophin gene, which caused a very severe muscle phenotype without cardiomyopathy, in a 13-year-old boy. These data indicate that the simultaneous lack of promoters P and M results in dramatic consequences in skeletal muscle but not in the heart.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0960-8966
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
494-7
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Novel deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy.
pubmed:affiliation
Dipartimento di Biochimica e Biotecnologie Mediche and CEINGE-Biotecnologie Avanzate, Facoltà di Medicina e Chirugia, Università degli Studi di Napoli 'Federico II', Naples, Italy.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't