Ontology highlight
ABSTRACT:
SUBMITTER: Nakamori M
PROVIDER: S-EPMC5689469 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Cell reports 20171001 5
Myotonic dystrophy types 1 (DM1) and 2 (DM2) are dominantly inherited neuromuscular disorders caused by a toxic gain of function of expanded CUG and CCUG repeats, respectively. Although both disorders are clinically similar, congenital myotonic dystrophy (CDM), a severe DM form, is found only in DM1. CDM is also characterized by muscle fiber immaturity not observed in adult DM, suggesting specific pathological mechanisms. Here, we revealed upregulation of the interleukin-6 (IL-6) myokine signali ...[more]