De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1

Myotonic dystrophy type 1 (DM1) is a multisystem disorder, caused by expansion of a CTG trinucleotide repeat in the 3′-untranslated region of the DMPK gene. The repeat expansion is somatically unstable and tends to increase in length with time, contributing to disease progression. In some individual...

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Publicado en:Eur J Hum Genet
Autores principales: Cumming, Sarah A., Hamilton, Mark J., Robb, Yvonne, Gregory, Helen, McWilliam, Catherine, Cooper, Anneli, Adam, Berit, McGhie, Josephine, Hamilton, Graham, Herzyk, Pawel, Tschannen, Michael R., Worthey, Elizabeth, Petty, Richard, Ballantyne, Bob, Warner, Jon, Farrugia, Maria Elena, Longman, Cheryl, Monckton, Darren G.
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer International Publishing 2018
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6189127/
https://ncbi.nlm.nih.gov/pubmed/29967337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0156-9
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