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Dystrophia myotonia: why focus on foci?
Dystrophia myotonia type 1 (DM1; Steinert's disease; myotonic dystrophy) is an autosomal dominant disorder due to a large CTG expansion in the 3′-untranslated region (UTR) of the DM protein kinase (DMPK) gene. Transcription of this gene yields a long CUGn-containing mutant (mut) RNA, in which c...
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2009
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2986259/ https://ncbi.nlm.nih.gov/pubmed/19172994 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.227 |
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