Linked Life Data

1453424

Source:http://linkedlifedata.com/resource/pubmed/id/1453424

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
1993-1-7
pubmed:abstractText
A clinical and molecular study is reported of 83 patients considered to be minimally affected with myotonic dystrophy (DM). These had been identified in three ways: 60 subjects were identified on clinical grounds and were divided into those with and those without neuromuscular involvement (groups I and II); nine subjects were at high risk of carrying the DM gene but had a normal phenotype (group III); and 14 were parents of definitely affected patients where neither parent showed clinical abnormalities (group IV). PCR analysis of the CTG repeat in the DM gene showed a range of 70 to 230 repeats for the younger at risk patients in group III, while the asymptomatic gene carriers in group IV had 53 to 60 repeats. The sensitivity of diagnosis by EMG was found to be 39%. For ophthalmic signs this was 97.5%. This suggests that assignment on the basis of minimal clinical features carries a significant error. Molecular analysis, in conjunction with established clinical investigations, should prove valuable in the identification and exclusion of minimal myotonic dystrophy.
pubmed:grant
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
29
pubmed:geneSymbol
DM
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
770-3
pubmed:dateRevised
2010-9-7
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Minimal expression of myotonic dystrophy: a clinical and molecular analysis.
pubmed:affiliation
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't