Instability of normal (CTG)(n) alleles in the DM kinase gene

Journal of Medical Genetics

Volumn 34, Issue 10, 1997, Pages 871-873

  Dow, David J ^a   Rubinsztein, David C ^a   Yates, John R W ^a,b   Barton, David E ^a,c   Ferguson Smith, Malcolm A ^a,b  

^a CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

Instability; Myotonic dystrophy; Normal allele

Indexed keywords

PROTEIN KINASE;

ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC STABILITY; HUMAN; MALE; MYOTONIC DYSTROPHY; PATHOGENICITY; PRIORITY JOURNAL;

EID: 0030773289     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.10.871     Document Type: Article

References (14)

1. Wieringa B. Myotonic dystrophy reviewed: back to the future? Hum Mol Genet 1994;3:1-7.
2. Harley HG, Rundle SA, Macmillan JC, et al. Size of the unstable CTG repeat sequence in relation to the phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993;52:1164-74.
3. Yamagata H, Miki T, Sakoda S, et al. Detection of a premutation in Japanese myotonic dystrophy. Hum Mol Genet 1994;3:819-20.
4. Weber J, Wong C. Mutation of human short tandem repeats. Hum Mol Genet 1993;2:1123-8.
5. Martorell L, Illa I, Rosell J, et al. Homozygous myotonicdystrophy: clinical and molecular studies of three unrelated cases. J Med Genet 1996;33:783-5.
6. Rubinsztein DC, Amos W, Leggo J, et al. Microsatellite evolution - evidence for directionality and variation in rate between species. Nat Genet 1995;10:337-43.
7. Amos W, Sawcer SJ, Feakes RW, et al. Microsatellites show mutational bias and heterozygote instability. Nat Genet 1996;13:390-1.
8. Primmer CR, Ellegren H, Saino N, et al. Directional evolution in germline microsatellite mutations. Nat Genet 1996; 13:391-3.
9. Rubinsztein DC, Leggo J, Coles R, et al. Phenotypic characterisation of individuals with 30-40 repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 1996;59:16-22.
10. Wong LC, Ashizawa T, Monckton DC, Caskey CT, Richards CS. Size heterogeneity of the CTG repeat in myotonic dystrophy: age and size dependence in leukocytes. Am j Hum Genet 1994;55(suppl):ASHG meeting abstract 1462.
11. Redman J, Fenwick RG, Fu Y, et al. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA 1993;269:1960-5.
12. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-83.
13. Goldberg YP, Kremer B, Andrew S, et al. Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet 1993;5:174-9.
14. n repeat in sporadic Huntington's disease. Nat Genet 1993;5:168-73.