Ontology highlight
ABSTRACT:
SUBMITTER: Fernandez-Costa JM
PROVIDER: S-EPMC4769077 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
PloS one 20160226 2
Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease caused by expansion of a CTG microsatellite in the 3' untranslated region of the DMPK gene. Despite characteristic muscular, cardiac, and neuropsychological symptoms, CTG trinucleotide repeats are unstable both in the somatic and germinal lines, making the age of onset, clinical presentation, and disease severity very variable. A molecular biomarker to stratify patients and to follow disease progression is, thus, an unmet m ...[more]