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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1997-2-21
|
| pubmed:abstractText |
We carried out a genotype-phenotype correlation study, based on clinical findings in 465 patients with myotonic dystrophy (DM), in order to assess [CTG] repeat number as a predictive test of disease severity. Our analysis showed that the DM subtypes defined by strict clinical criteria fall into three different classes with a log-normal distribution. This distribution is useful in predicting the probability of specific DM phenotypes based on triplet [CTG] number. This study demonstrates that measurement of triplet expansions in patients' lymphocyte DNA is highly valuable and accurate for prognostic assessment.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
0148-7299
|
| pubmed:author |
pubmed-author:Andreasi BassiFF,
pubmed-author:AngeliniCC,
pubmed-author:BaigetMM,
pubmed-author:CornetMM,
pubmed-author:DallapiccolaBB,
pubmed-author:GennarelliMM,
pubmed-author:MartinezJ MJM,
pubmed-author:MartorellLL,
pubmed-author:MenegazzoEE,
pubmed-author:MostacciuoloM LML,
pubmed-author:NovelloAA,
pubmed-author:PizzutiAA
|
| pubmed:issnType |
Print
|
| pubmed:day |
11
|
| pubmed:volume |
65
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
342-7
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:8923947-Disease Progression,
pubmed-meshheading:8923947-Female,
pubmed-meshheading:8923947-Humans,
pubmed-meshheading:8923947-Male,
pubmed-meshheading:8923947-Myotonic Dystrophy,
pubmed-meshheading:8923947-Predictive Value of Tests,
pubmed-meshheading:8923947-Trinucleotide Repeats
|
| pubmed:year |
1996
|
| pubmed:articleTitle |
Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats.
|
| pubmed:affiliation |
Cattedra di Genetica Umana, Università Tor Vergata, Rome, Italy.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|