Linked Life Data

8064304

Source:http://linkedlifedata.com/resource/pubmed/id/8064304

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
1994-9-19
pubmed:abstractText
Recently, we have demonstrated the specific deficiency of the 50-kDa dystrophin-associated glycoprotein (50DAG) in severe childhood autosomal recessive muscular dystrophy with Duchenne-like phenotype (SCARMD or AR-DLMD), a disease first reported in Tunisia and now presumed to be prevalent in North Africa and the Middle East. Here we demonstrate the deficiency of the 50DAG in one caucasoid and 5 negroid Brazilian patients with severe muscular dystrophy, which confirms that AR-DLMD with the 50DAG deficiency is not confined to the Arab populations. Without the analysis of both dystrophin and 50DAG, isolated male patients with this condition could be undiagnosed or misdiagnosed as having Duchenne or severe Becker muscular dystrophy. We also report, for the first time, the normal expression of the 50DAG and other dystrophin-associated proteins in one negroid and 2 caucasoid Brazilian patients with a phenotype indistinguishable from that of AR-DLMD with 50DAG deficiency. This is consistent with the genetic heterogeneity for the phenotype of AR-DLMD.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0022-510X
pubmed:author
pubmed:issnType
Print
pubmed:volume
123
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
122-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy.
pubmed:affiliation
Departamento de Biologia, Universidade de São Paulo, Brazil.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't