Ontology highlight
ABSTRACT:
SUBMITTER: Barbe L
PROVIDER: S-EPMC5339342 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Barbé Lise L Lanni Stella S López-Castel Arturo A Franck Silvie S Spits Claudia C Keymolen Kathelijn K Seneca Sara S Tomé Stephanie S Miron Ioana I Letourneau Julie J Liang Minggao M Choufani Sanaa S Weksberg Rosanna R Wilson Michael D MD Sedlacek Zdenek Z Gagnon Cynthia C Musova Zuzana Z Chitayat David D Shannon Patrick P Mathieu Jean J Sermon Karen K Pearson Christopher E CE
American journal of human genetics 20170301 3
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 is not absolute, suggesting contributions of other factors. We determined CpG methylation flanking the CTG repeat in 79 blood samples from 20 CDM1-affected individuals; 21, 27, and 11 individuals wit ...[more]