New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)

Neurology

Volumn 54, Issue 6, 2000, Pages 1218-1221

  Ashizawa, T ^a,a   Gonzales, I ^a   Ohsawa, N ^a   Singer, R H ^a   Devillers, M ^a   Balasubramanyam, A ^a   Cooper, T A ^a   Khajavi, M ^a   Lia Baldini, A S ^a   Miller, G ^a   Philips, A V ^a   Timchenko, L T ^a   Waring, J ^a   Yamagata, H ^a   Barbet, J P ^a   Klesert, T R ^a   Tapscott, S J ^a   Roses, A D ^a   Wagner, M ^a   Baiget, M ^a   Martorell, L ^a   Browne, G B ^a   Eymard, B ^a   Gourdon, G ^a   Junien, C ^a   Seznec, H ^a   Carey, N ^a   Gosling, M ^a   Maire, P ^a   Gennarelli, M ^a   Sato, S ^a   Ansved, T ^a   Kvist, U ^a   Eriksson, M ^a   Furling, D ^a   Chen, E J ^a   Housman, D E ^a   Luciano, B ^a   Siciliano, M ^a   Spring, N ^a   Shimizu, M ^a   Eddy, E ^a   Morris, G E ^a   Krahe, R ^a   Furuya, H ^a   Adelman, J ^a   Pribnow, D ^a   Furutama, D ^a   Mathieu, J ^a   Hilton Jones, D ^a   Kinoshita, M ^a   Abbruzzese, C ^a   Sinden, R R ^a   Wells, R D ^a   Pearson, C E ^a   Kobayashi, T ^a   Johansson, A ^a   Salvatori, S ^a   Perryman, B ^a   Swanson, M ^a   Gould, F K ^a   Harris, S E ^a   Johnson, K ^a   Mitchell, A M ^a   Monckton, D G ^a   Winchester, C L ^a   Antonini, G ^a   Day, J W ^a   Liquori, C ^a   Ranum, L P W ^a   Westerlaken, J ^a   Wieringa, B ^a   Griffith, J D ^a   Michalowski, S ^a   Moore, H ^a   Hamshere, M ^a   Korade, Z ^a   Thornton, C A ^a   Jaeger, H ^a   Lehmann, F ^a   Moorman, J R ^a   Mounsey, J P ^a   Mahadevan, M S ^a   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CONFIDENTIALITY; DNA DETERMINATION; GENE MUTATION; GENOTYPE; HUMAN; MOLECULAR BIOLOGY; MYOTONIC DYSTROPHY; NOMENCLATURE; PATENT; PHENOTYPE; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0001125916     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.54.6.1218     Document Type: Article

References (19)

1. Harper PS. Myotonic dystrophy, 2nd ed. Philadelphia, PA: Sauders, 1989.
2. Fu YH, Pizzuti A, Fenwick RG Jr, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256-1258.
3. Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992;255:1253-1255.
4. Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
5. Thornton CA, Griggs RC, Moxley RT III. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 1994;35: 269-272.
6. Ricker K, Koch MC, Lehmann-Horn F, et al. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995;52:25-31.
7. Meola G, Sansone V, Radice S, Skradski S, Ptacek L. A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromuscul Disord 1996;6:143-150.
8. Udd B, Krahe R, Wallgren-Pettersson C, Falck B, Kalimo H. Proximal myotonic dystrophy - a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Neuromuscul Disord 1997;7:217-228.
9. Ranum LP, Rasmussen PF, Benzow KA, Koob MD, Day JW. Genetic mapping of a second myotonic dystrophy locus. Nat Genet 1998;19:196-198.
10. Day JW, Roelofs R, Leroy B, Pech I, Benzow K, Ranum LP. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromusc Disord 1999;9:19-27.
11. Ricker K, Grimm T, Koch MC, et al. Linkage of proximal myotonic myopathy to chromosome 3q. Neurology 1999;52: 170-171.
12. Thornton CA, Ashizawa T. Getting a grip on the myotonic dystrophies. Neurology 1999;52:12-13.
13. Ashizawa T, Dubel J, Dunne PW, et al. Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the CTG repeat. Neurology 1992;42: 1877-1883.
14. Harley H, Rundle S, McMillan JC, et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993; 52:1164-1174.
15. Lavedan C, Hofmann-Radvanyi H, Shelbourne P, et al. Myotonic dystrophy: size and sex-dependent dynamics of CTG meiotic instability and somatic mosaicism. Am J Hum Genet 1993;52:875-883.
16. Ashizawa T, Zoghbi H. Diseases inherited with trinucleotide repeat expansions. In: Appel SH, ed. Current Neurology. Amsterdam: IOS Press, 1997;17:79-135.
17. Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992;355:547-548.
18. Shelbourne P, Davies J, Buxton J, et al. Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker. N Engl J Med 1993;328:471-475.
19. ACMG/ASHG statement. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group. Am J Hum Genet 1998;62:1243-1247.