CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

CTG repeat expansions in DMPK cause myotonic dystrophy (DM1) with a continuum of severity and ages of onset. Congenital DM1 (CDM1), the most severe form, presents distinct clinical features, large expansions, and almost exclusive maternal transmission. The correlation between CDM1 and expansion size...

Descripción completa

Detalles Bibliográficos
Autores principales: Barbé, Lise, Lanni, Stella, López-Castel, Arturo, Franck, Silvie, Spits, Claudia, Keymolen, Kathelijn, Seneca, Sara, Tomé, Stephanie, Miron, Ioana, Letourneau, Julie, Liang, Minggao, Choufani, Sanaa, Weksberg, Rosanna, Wilson, Michael D., Sedlacek, Zdenek, Gagnon, Cynthia, Musova, Zuzana, Chitayat, David, Shannon, Patrick, Mathieu, Jean, Sermon, Karen, Pearson, Christopher E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339342/
https://www.ncbi.nlm.nih.gov/pubmed/28257691
http://dx.doi.org/10.1016/j.ajhg.2017.01.033

Ejemplares similares

Ejemplares similares