The clinical spectrum of patients with myotonic dystrophy with large triplet repeat expansion;Das krankheitsbild der myotonen muskeldystrophie bei patienten mit grosser CTG-tripletexpansion

Nervenarzt

Volumn 70, Issue 2, 1999, Pages 131-135

  Spranger, M ^a   Janssen, B ^b   Rating, D ^a   Spranger, S ^b  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

CTG repeats; Myotonic dystrophy

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CORRELATION FUNCTION; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE MUTATION; HUMAN; MALE; MYOTONIC DYSTROPHY; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 19; FEMALE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MYOTONIC DYSTROPHY; PROGNOSIS; PROTEIN-SERINE-THREONINE KINASES; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0032998398     PISSN: 00282804     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001150050413     Document Type: Article

References (19)

1. Barcelo JM, Pluscauskas M, MacKenzie AE, Tsifildis C, Narang M, Korneluk RG (1994) Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy. Am J Hum Genet 54:1124-1125
2. Brook JD, McCurrach ME, Harley HG et al (1992) Molecular basis of myotonic dystrophy: expansion of trinucleotide (CTG) repeat at the 3-prime end of a transcript encoding a protein kinase family member. Cell 68:799-808
3. Buxton J, Shelbourne P, Davies J et al (1992) Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 335:547-548
4. Fu YH, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Nasser GA, Ashizaqa T, de Jong P, Wieringa B, Korneluk R, Perryman MB, Epstein HF, Caskey CT (1992) An unstable triplet repeat in a gene related to myotonic dystrophy. Science 255:1256-1258
5. Gennarelli M, Novelli G, Bassi FA, Martorell L, Cornet M, Menegazzo E, Mostacciuolo ML, Martinez JM, Angelini C, Pizzuti M, Baiget M, Dallapiccola B (1996) Prediction of myotonic dystrophy clinical severity based on the number of intragenic (CTG)n trinucleotide repeats. Am J Med Gen 65:342-347
6. Hageman AT, Gabreels FJ, Liem KD, Renkawek K, Boon JM (1993) Congenital myotonic dystrophy: a report on thirteen cases and a review of the literature. J Neurol Sci 115:95-101
7. Harley HG, Brook D, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Howman DA, Shaw DJ (1992) Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355:545-548
8. Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, Crow S, Reardon W, Fenton I, Shaw DJ, Harper PS (1993) Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Gen 52:1164-1174
9. Harper PS (1989) Myotonic dystrophy, 2nd ed. Saunders, Philadelphia
10. Hunter A, Tsifildis C, Mettler G, Jacob P, Mahadevan M, Surh L, Korneluk R (1992) The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J Med Genet 29:774-779
11. Koch MC, Grimm T, Harley HG, Harper PS (1991) Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet 48:1084-1091
12. Lavedon C, Hofmann-Radvanyi H, Shelbourne P et al (1993) Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet 52:875-883
13. Mathieu J, De Braekeleer M, PrCvost C, Boily C (1992) Myotonic dystrophy: clinical assessment of muscular disability in an isolated population with presumed homogenous mutation. Neurology 42:203-209
14. Reardon W, Newcombe R, Fenton I, Sibert J, Harper PS (1993) The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects. Arch Dis Child 68:177-181
15. Roig M, Balliu PR, Navarro C, Brugera R, Losada M (1994) Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy. Pediatr Neurol 11:208-213
16. Spranger M, Spranger S, Kircheisen R, Tischendorf M, Meinck H-M (1997) Myotonic dystrophy: the role of large triplet repeat length in the development of mental retardation. Arch Neurol 54:251-254
17. Thornton CA, Johnson KJ, Moxley RT (1994) Myotonic dystrophy patients have larger CTG expansion in skeletal muscle than in leukocytes. Ann Neurol 35:104-107
18. Tsilfildis C, Mackenzie AE, Mettler G, Barcelo J, Korneluk RG (1992) Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet 1:192-195
19. Turnpenny P, Clark C, Kelly K (1994) Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J Med Genet 31:300-305