Myotonic dystrophy type 2 is rare in the Japanese population

  title={Myotonic dystrophy type 2 is rare in the Japanese population},
  author={Tohru Matsuura and Narihiro Minami and Hajime Arahata and Kinji Ohno and Koji Abe and Yukiko K. Hayashi and Ichizo Nishino},
  journal={Journal of Human Genetics},
Myotonic dystrophy (DM) is the most common form of adult-onset muscular dystrophy and is characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement. There are two distinct entities currently known: DM type 1 (DM1) and type 2 (DM2). DM2 is caused by the expansion of a tetranucleotide CCTG repeat in the first intron of the zinc finger protein 9 (ZNF9) gene on chromosome 3q21,1 whereas DM1 is caused by a CTG repeat expansion in the 3¢-untranslated region of the… CONTINUE READING


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Report of the 115 th ENMC workshop : DM 2 / PROMM and other myotonic dystrophies : 3 rd Workshop

B. Udd, G. Meola, +3 authors J. Day
Neuromuscul . Disord . • 2003

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