Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy

Neurology

Volumn 50, Issue 5, 1998, Pages 1501-1504

  Simmons, Zachary ^a   Thornton, Charles A ^b   Seltzer, William K ^c   Sue Richards, C ^d  

^a PENN STATE COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^c ATHENA DIAGNOSTICS INC   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 19Q; CLINICAL ARTICLE; FEMALE; GENE LOCUS; GENE MUTATION; HUMAN; MALE; MYOTONIC DYSTROPHY; NUCLEOTIDE REPEAT; PRIORITY JOURNAL;

EID: 0031816699     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.50.5.1501     Document Type: Article

References (10)

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2. Fu Y-H, Pizzuti A, Fenwick RG, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256-1258.
3. Barceló JM, Mahadevan MS, Tsilfidis C, MacKenzie AE, Korneluk RG. Intergenerational stability of the myotonic dystrophy protomutation. Hum Mol Genet 1993;2:705-709.
4. Hunter A, Tsilfidis C, Mettler G, et al. The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J Med Genet 1992;29:774-779.
5. De Die-Smulders CEM, Höweler CJ, Mirandolle JF, et al. Anticipation resulting in elimination of the myotonic dystrophy gene: a follow-up study of one extended family. J Med Genet 1994;31:595-601.
6. Dietmaier W, Fabry S, Schmitt R. DISEC-TRISEC: di-and trinucleotide sticky end cloning of PCR-amplified DNA. Nucleic Acids Res 1993;21:3603-3604.
7. Imbert G, Kretz C, Johnson K, Mandel J-L. Origin of the expansion mutation in myotonic dystrophy. Nat Genet 1993;4:72-76.
8. Yamagata H, Miki T, Sakoda S-I, et al. Detection of a premutation in Japanese myotonic dystrophy. Hum Mol Genet 1994; 3:819-820.
9. Ashizawa T, Anvret M, Baiget M, et al. Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet 1994;54:414-423.
10. Chung M-Y, Ranum LPW, Duvick LA, Servadio A, Zoghbi HY, Orr HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet 1993;5:254-258.