Reassessment of the specificity of lens opacities in myotonic dystrophy

Ophthalmic Research

Volumn 28, Issue 4, 1996, Pages 224-229

  Giordano, M ^a   Comoli, A M ^b   De Angelis, M S ^a   Mutani, R ^a   Sebastiani, F ^b   Momigliano Richiardi, P ^a,c  

^a UNIVERSITY OF TURIN   (Italy)

^b MAGGIORE DELLA CARITÀ HOSPITAL   (Italy)

^c CNR   (Italy)

Author keywords

Cataract; Myotonic dystrophy; Myotonic dystrophy mutation; Slit lamp examination

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; CATARACT; CLINICAL ARTICLE; DNA DETERMINATION; FEMALE; GENE MUTATION; HUMAN; MALE; MYOTONIC DYSTROPHY; PRIORITY JOURNAL; RELATIVE;

EID: 0029831965     PISSN: 00303747     EISSN: 14230259     Source Type: Journal    
DOI: 10.1159/000267907     Document Type: Article

References (14)

1. Harper PS: The Clinical Picture; in Myotonic Dystrophy, ed 2. London, Saunders, 1989. pp 13-36.
2. Vogt A: Die Cataract bci myoto-nischer Dystrophic, Schweiz Med Wochenschr 1921;29:669-674.
3. Vos TA: La cataractc de la dystrophic myotonique, Ann Ocul (Paris) 1938;175:641-666.
4. Junge J: Ocular changes in dystrophia myotonica, paramyotonia and myotonia congenita, Doc Ophthalmol 1966;21:1-115.
5. Horvath A: Untersuchungen und Ergcbnissc iiber Cataracta myotonica, Klin Monatsbl Augcnhcilkd 1973;163:86-91.
6. Vassilopulos D, Alevizos B, Spengos M: Cataract and gamma-glutamyl cycle in myotonic dystrophy, Oph-thalmologica 1977;174:167-169.
7. Ashizawa T, Hejtmancik JF, Liu J, Perryman MB, Epstein HF, Koch DD: Diagnostic value of ophthalmo-logical findings in myotonic dystrophy: Comparison with risks calculated by haplotvpe analysis of closely linked restriction fragment length polymorphisms, Am J Med Genet 1992:42:55-60.
8. Brook JD, McCurrach ME, Harley HG, Buklcr AJ, Church D, Abura-tani H, Hunter K, Stanton VP, Thir-ion JP, Hudson T, Sohn Zeleman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PH, Shaw DJ, Housman DE Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CGT) repeat at the 3' end of a transcript encoding a protein kinase family member, Cell 1992;68:799-808.
9. Reardon W, Harley HG, Brook JD, Rundle SA, Crow S, Harper PS, Shaw DJ: Minimal expression of myotonic dystrophy: A clinical and molecular analysis, J Med Genet 1992;29:770-773.
10. MacMillan JC, Myring J, Harley HG, Reardon W, Harper PS, Shaw DJ: Molecular analysis for the myotonic dystrophy mutation in neuromuscular disorders, Neuromusc Disord 1992;2:405.
11. Reardon W, MacMillan JC, Myring J, Harley HG, Rundle SA, Beck L, Harper PS, Shaw DJ: Cataract and myotonic dystrophy: The role of molecular diagnosis, Br J Ophthalmol 1993;77:579-583.
12. Sambrook J, Fritish EF, ManiatisT: Molecular Cloning: A Laboratory' Manual, New York, Cold Spring Harbor Laboratory Press, 1989.
13. Fu YH, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, De Jong P, Wicringa B, Kornrluk R, Perryman MB, Epstein HF, Caskey CT: An unstable triplet repeat in a gene related to myotonic muscular dystrophy, Science 1992.255:1256-1258.
14. Kidd A, Turnpenny P, Kelly K, Clark C, Church W, Hutchinson C, Dean JCS, Haitcs NE: Ascertainment of myotonic dystrophy through cataract by selective screening, J Med Genet 1995;32:519-523.