Linked Life Data

8761273

Source:http://linkedlifedata.com/resource/pubmed/id/8761273

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
1996-12-18
pubmed:abstractText
In a 9-year-old boy with Duchenne muscular dystrophy we found a large in-frame deletion, spanning exons 10 to 53 of the dystrophin gene. The deletion removed almost all of the central rod domain of dystrophin. Using carboxyterminal dystrophin antibodies the immunohistochemical reaction was normal in all muscle fibers. In immunoblot studies we found dystrophin of abnormal size (160 kDa) and normal amount (about 100%). The immunochemical features and the reading frame deduced from DNA analysis are usually associated with Becker muscular dystrophy, but the clinical characteristics were those of the severe Duchenne phenotype. All the cases of in-frame dystrophin deletions reported so far, which involved more than 36 exons, invariably resulted in a severe phenotype. Therefore, a threshold effect for dystrophin length may be reasonably suspected. Very short dystrophin molecules might induce a severe disarray of the dystrophin network.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0148-639X
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1154-60
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?
pubmed:affiliation
Department of Neurology, University of Padua, Italy.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't