Linked Life Data

1388424

Source:http://linkedlifedata.com/resource/pubmed/id/1388424

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1992-10-26
pubmed:abstractText
We report a patient with X-linked muscular dystrophy who had rapidly progressive muscle weakness and became wheelchair-bound at age 10 years. Clinically, he was diagnosed as having Duchenne muscular dystrophy; however, he was diagnosed as having Becker muscular dystrophy by dystrophin tests using a C-terminal monoclonal antibody. No immunolabelling was observed with a monoclonal antibody against the N-terminal domain. Multiplex polymerase chain reaction analysis revealed the deletion of exons 3-19. The data suggest that the deletion of the N-terminal domain of dystrophin can cause a severe phenotype even when the C-terminus of the protein is well preserved.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0887-8994
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
310-2
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:articleTitle
Phenotypic Duchenne muscular dystrophy with C-terminal domain.
pubmed:affiliation
Third Department of Internal Medicine, Faculty of Medicine, Kagoshima, Japan.
pubmed:publicationType
Journal Article, Case Reports