250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1

Human Mutation

Volumn 19, Issue 2, 2002, Pages 131-139

  Savić, Dušanka ^a   Rakočvić Stojanović, Vidosava ^b   Keckarević, Dušan ^a   Čuljković, Biljana ^a   Stojković, Oliver ^a   Mladenoviić, Jelena ^b   Todoroviić, Slobodanka ^b   Apostolski, Slobodan ^b   Romac, Stanka ^a  

^a UNIVERSITY OF BELGRADE   (Serbia)

^b UNIVERSITY OF BELGRADE   (Serbia)

Author keywords

Age at onset; CTG repeats; DM1; DMPK; Genotype phenotype correlation; Myotonic dystrophy type 1; Somatic mosaicism

Indexed keywords

3' UNTRANSLATED REGION; ADOLESCENT; ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE COURSE; DISEASE SEVERITY; DMPK GENE; FEMALE; GENE; GENOTYPE; HUMAN; LYMPHOCYTE; MALE; MOLECULAR STABILITY; MYOTONIC DYSTROPHY; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SOUTHERN BLOTTING;

ADULT; AGE OF ONSET; ALLELES; ANALYSIS OF VARIANCE; DISEASE PROGRESSION; FEMALE; GENOTYPE; HUMANS; LYMPHOCYTES; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MYOTONIC DYSTROPHY; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN-SERINE-THREONINE KINASES; TIME FACTORS; TRINUCLEOTIDE REPEAT EXPANSION; TRINUCLEOTIDE REPEATS;

EID: 0036164388     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10027     Document Type: Article

References (43)

1. Larger expansion of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
2. Somatic instability of CTG repeats in myotonic dystrophy
3. Fast and sensitive silver staining of DNA in polyacrylamide gels
4. DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model
5. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
6. CTG repeat polymorphism in DMPK gene in healthy Yugoslav population
7. Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
8. Age and causes of death in adult-onset myotonic dystrophy
9. Personality patterns in patients with myotonic dystrophy
10. Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in transgenic mouse model of triplet repeat instability
11. An unstable triplet repeat in a gene related to myotonic muscular dystrophy
12. Prediction of myotonic dystrophy clinical severity based on the number of intragenic (CTG)n trinucleotide repeats
13. Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes
14. Myotonic dystrophy: The correlation of the (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions
15. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
16. Anticipation in myotonic dystrophy: Fact or fiction
17. New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)
18. Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy
19. Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm
20. Myotonic dystrophy: Correlation of clinical symptoms with the size of the CTG trinucleotide repeat
21. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
22. Mice deficient in Six5 develop cataracts: Implications for myotonic dystrophy
23. Myotonic dystrophy: Tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression
24. Myotonic dystrophy: Size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism
25. Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
26. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
27. Correlation between individual clinical manifestation and CTG repeat amplification in myotonic dystrophy
28. Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients
29. Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1
30. Somatic mosaicism, germline expansion, germline reversion and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
31. (CTG)n triplet mutation and phenotype manifestation in myotonic dystrophy patients
32. Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure
33. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
34. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts
35. The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeats
36. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
37. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
38. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
39. Myotonic dystrophy: Evidence for a possible dominant-negative RNA mutation
40. Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
41. Analysis of CTG repeat in skeletal muscle of young and adults myotonic dystrophy patients: When does expansion occur?