Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2-Reference-Cited by-同舟云学术

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Published:2012-05-30 Issue:12 Volume:20 Page:1203-1208
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Kamsteeg Erik-Jan,Kress Wolfram,Catalli Claudio,Hertz Jens M,Witsch-Baumgartner Martina,Buckley Michael F,van Engelen Baziel G M,Schwartz Marianne,Scheffer Hans

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012108.pdf

Reference32 articles.

1. The International Myotonic Dystrophy Consortium (IDMC). New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Neurology 2000; 54: 1218–1221.

2. Harper PS : Myotonic Dystrophy, 3rd edn, Harcourt Publishers Ltd: London, 2001.

3. Suominen T, Bachinski LL, Auvinen S et al. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet 2011; 19: 776–782.

4. Groh WJ, Groh MR, Saha C et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med 2008; 358: 2688–2697.

5. Day JW, Roelofs R, Leroy B, Pech I, Benzow K, Ranum LP : Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul Disord 1999; 9: 19–27.

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