Homozygous myotonic dystrophy: Clinical and molecular studies of three unrelated cases

Journal of Medical Genetics

Volumn 33, Issue 9, 1996, Pages 783-785

  Martorell, Loreto ^a   Illa, Isabel ^a   Rosell, Jordi ^b   Benitez, Javier ^c   Sedano, Maria José ^d   Baiget, Montserrat ^a  

^a HOSPITAL SANT PAU   (Spain)

^b HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^c Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^d HOSPITAL UNIVERSITARIO DE BURGOS   (Spain)

Author keywords

Homozygous; Myotonic dystrophy

Indexed keywords

REPETITIVE DNA;

ADULT; AGED; ALLELE; ARTICLE; CASE REPORT; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MYOTONIC DYSTROPHY; PRIORITY JOURNAL;

EID: 0029762492     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.9.783     Document Type: Article

References (19)

1. Harper PS. Myotonic dystrophy. Saunders, Philadelphia: Saunders, 1989.
2. Aslanidis C, Jansen G, Amemiya C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 1992;355:548-50.
3. Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992;355:547-8.
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. Fu YH, Pizzuti A, Fenwick RG, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256-8.
6. Harley HG, Brook JD, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992;355:545-6.
7. 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;255:1253-5.
8. Melchionda S, Cobo A, Gennarelli M, et al. Expansion of the myotonic dystrophy gene in Italian and Spanish patients. J Med Genet 1992;29:789-90.
9. Lavedan C, Hofmmann-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;52:875-83.
10. Cobo AM, Baiget M, López de Munain A, et al. Sex-related difference in intergenerational expansion of myotonic dystrophy gene. Lancet 1993;341:1159-60.
11. Cobo A, Martinez JM, Martorell L, et al. Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters. Hum Mol Genet 1993;2:711-15.
12. Roeder E, Jain K, Timchenko L, et al. Homozygous myotonic dystrophy. Am J Hum Genet Suppl 1994;55:A23.
13. Brunner HG, Korneluk RG, Coerwinkel-Driessen M, et al. Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM). Hum Genet 1989;81:308-10.
14. Brook JD, Harley HG, Walsh KV, et al. Identification of new DNA markers close to myotonic dystrophy locus. J Med Genet 1991;28:84-8.
15. Johnson K, Shelbourne P, Davies J, et al. A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus. Am J Hum Genet 1990;46:1073-81.
16. Korneluk RG, MacKenzie AE, Nakamura Y, et al. A reordering of human chromosome 19 long arm DNA markers and identification of markers flanking the myotonic dystrophy locus. Genomics 1989;5:596-604.
17. Sambrook J, Frisch EF, Maniatis T. Molecular cloning: a laboratory manual. 2nd ed. New York: Cold Spring Harbour Laboratory Press, 1989.
18. Richards R, Sutherland G. Dynamic mutations: a new class of mutations causing human disease. Cell 1992;70:709-12.
19. Imbert G, Kretz C, Johnson K, Mandel JL. Origin of the expansion mutation in myotonic dystrophy. Nature Genet 1993;4:72-6.