Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2

Author:

Cardani Rosanna,Giagnacovo Marzia,Botta Annalisa,Rinaldi Fabrizio,Morgante Alessandra,Udd Bjarne,Raheem Olayinka,Penttilä Sini,Suominen Tiina,Renna Laura V.,Sansone Valeria,Bugiardini Enrico,Novelli Giuseppe,Meola Giovanni

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Reference34 articles.

1. Harper PS (2001) Myotonic dystrophy. In: Karpati G, Hilton-Jones D, Griggs RC (eds) Disorders of voluntary muscle. University Press, Cambridge, pp 541–559

2. Brook JD, McCurrach ME, Harley HG et al (1999) 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 69:799–808

3. Fu YH, Pizzuti A, Fenwick RG Jr et al (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255:1256–1258

4. Mahadevan M, Tsilfidis C, Sabourin L et al (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255:1253–1255

5. Ranum LPW, Rasmussen P, Benzow K et al (1999) Genetic mapping of a second myotonic dystrophy locus. Nat Genet 19:196–198

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