טוען...
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: | , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Nature Publishing Group
2012
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| נושאים: | |
| גישה מקוונת: | 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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