Intergenerational contraction of the ctg repeats in 2 families with myotonic dystrophy type 1

Neurology

Volumn 73, Issue 24, 2009, Pages 2126-2127

  Puymirat, Jack ^a   Giguère, Yves ^a   Mathieu, Jean ^b   Bouchard, Jean Pierre ^a  

^a LAVAL UNIVERSITY   (Canada)

^b Neuromuscular Clinic   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; FAMILY HISTORY; FEMALE; HUMAN; MALE; MYOTONIC DYSTROPHY; MYOTONIC DYSTROPHY 1; PEDIGREE; PRIORITY JOURNAL; SOUTHERN BLOTTING; TRINUCLEOTIDE REPEAT;

EID: 73349135332     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181c677e1     Document Type: Article

References (7)

1. Harper PS. Myotonic Dystrophy. London: W.B. Saun-ders; 2001.
2. 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.
3. de Die-Smulders CE, 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.
4. Ashizawa T, Anvret M, Baiget M, et al. Characteristics of intergenerational contractions of the CTG repeat in myo-tonic dystrophy. Am J Hum Genet 1994;54:414-423.
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6. López de Munain A, Cobo AM, Sáenz A, et al. Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy. Genet Epidemiol 1996;13:483-487.
7. Arsenault E, Prevost C, Lescault A, Laberge C, Puymirat J, Mathieu J. Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neurology 2006;66:1248-1250.