PMC:5985359 / 3730-4374 JSONTXT

{"project":"2_test","denotations":[{"id":"29526280-25593321-2044762","span":{"begin":155,"end":157},"obj":"25593321"},{"id":"29526280-1546325-2044763","span":{"begin":392,"end":394},"obj":"1546325"},{"id":"29526280-7896884-2044764","span":{"begin":396,"end":398},"obj":"7896884"},{"id":"29526280-10970838-2044765","span":{"begin":529,"end":531},"obj":"10970838"},{"id":"29526280-19095965-2044766","span":{"begin":533,"end":535},"obj":"19095965"},{"id":"29526280-28442996-2044767","span":{"begin":537,"end":539},"obj":"28442996"},{"id":"29526280-22884328-2044768","span":{"begin":638,"end":640},"obj":"22884328"},{"id":"29526280-20098426-2044769","span":{"begin":642,"end":644},"obj":"20098426"}],"text":"Transcripts containing expanded copies of the CUG repeat accumulate as discrete nuclear RNA foci within tissue derived from individuals affected with FECD;15 similar to other repeat expansion-associated disorders, such as myotonic dystrophy type 1 (DM1 [MIM: 160900]), which is caused by an identical CTG repeat expansion located within the 3′ untranslated region (UTR) of DMPK (MIM: 605377).16, 17 DM1 pathogenesis has largely been attributed to these RNA aggregates sequestering RNA-splicing factors, including MBNL1 and MBNL2,18, 19, 20 leading to a functional deficiency of these proteins and subsequent global disruption of splicing.21, 22"}