Ontology highlight
ABSTRACT:
SUBMITTER: Matloka M
PROVIDER: S-EPMC5974047 | biostudies-other | 2018
REPOSITORIES: biostudies-other
Matloka Magdalena M Klein Arnaud F AF Rau Frédérique F Furling Denis D
Frontiers in neurology 20180523
Myotonic dystrophy type 1 (DM1 also known as Steinert disease) is a multisystemic disorder mainly characterized by myotonia, progressive muscle weakness and wasting, cognitive impairments, and cardiac defects. This autosomal dominant disease is caused by the expression of nuclear retained RNAs containing pathologic expanded CUG repeats that alter the function of RNA-binding proteins in a tissue-specific manner, leading ultimately to neuromuscular dysfunction and clinical symptoms. Although consi ...[more]