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

Myotonic dystrophy is an autosomal dominant, multisystem disorder that is characterized by myotonic myopathy. The symptoms and severity of myotonic dystrophy type l (DM1) ranges from severe and congenital forms, which frequently result in death because of respiratory deficiency, through to late-onse...

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Main Authors: 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
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2012
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Policy
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3499739/
https://ncbi.nlm.nih.gov/pubmed/22643181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.108
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