Ontology highlight
ABSTRACT:
SUBMITTER: Wojciechowska M
PROVIDER: S-EPMC5897446 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Wojciechowska Marzena M Sobczak Krzysztof K Kozlowski Piotr P Sedehizadeh Saam S Wojtkowiak-Szlachcic Agnieszka A Czubak Karol K Markus Robert R Lusakowska Anna A Kaminska Anna A Brook J David JD
Scientific reports 20180412 1
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are human neuromuscular disorders associated with mutations of simple repetitive sequences in affected genes. The abnormal expansion of CTG repeats in the 3'-UTR of the DMPK gene elicits DM1, whereas elongated CCTG repeats in intron 1 of ZNF9/CNBP triggers DM2. Pathogenesis of both disorders is manifested by nuclear retention of expanded repeat-containing RNAs and aberrant alternative splicing. The precise determination of absolute numbers of muta ...[more]