Linked Life Data

19012301

Source:http://linkedlifedata.com/resource/pubmed/id/19012301

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2009-1-20
pubmed:abstractText
We report a Becker muscular dystrophy (BMD) family with one 5-year-old affected patient and a 69-year-old asymptomatic grandfather. Dystrophin gene multiplex polymerase chain reaction and multiplex ligation-dependant probe amplification analysis showed that both males carried an in-frame deletion of exons 45-55. Segregation analysis revealed two additional asymptomatic boys in this family. Our finding supports previous predictions that exons 45-55 are the optimal multiexon skipping target in antisense gene therapy to transform the severe Duchenne muscular dystrophy into the milder BMD, or even asymptomatic, phenotype.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0148-639X
pubmed:author
pubmed:issnType
Print
pubmed:volume
39
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
239-43
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion.
pubmed:affiliation
Genetics Division, Clinical Hospital "José de San Martín," University of Buenos Aires, 2250 Paraguay, 1120 Buenos Aires, Argentina. vferreiro@ffyb.uba.ar
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't