Linked Life Data

16636244

Source:http://linkedlifedata.com/resource/pubmed/id/16636244

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2006-4-25
pubmed:abstractText
The authors report a genotype-phenotype correlation study in 102 patients with myotonic dystrophy type 1 carrying small CTG repeat expansions. Most patients carrying 50 to 99 CTG repeats were asymptomatic, except for cataracts. Myotonia, weakness, excessive daytime sleepiness, and myotonic discharges at EMG were significantly more present in the patients with 100 to 200 CTG repeats. These findings highlight different outcomes related to the expansion size, even among small CTG expansions.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1526-632X
pubmed:author
pubmed:issnType
Electronic
pubmed:day
25
pubmed:volume
66
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1248-50
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions.
pubmed:affiliation
Neuromuscular Clinic, Carrefour de Santé de Jonquière, Quebec, Canada. marigol@hotmail.com
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't