Ontology highlight
ABSTRACT:
SUBMITTER: Savkur RS
PROVIDER: S-EPMC1182097 | biostudies-literature | 2004 Jun
REPOSITORIES: biostudies-literature
Savkur R S RS Philips A V AV Cooper T A TA Dalton J C JC Moseley M L ML Ranum L P W LP Day J W JW
American journal of human genetics 20040426 6
Myotonic dystrophy (DM) is caused by either an untranslated CTG expansion in the 3' untranslated region of the DMPK gene on chromosome 19 (dystrophia myotonica type 1 [DM1]), or an untranslated CCTG tetranucleotide repeat expansion in intron 1 of the ZNF9 gene on chromosome 3 (dystrophia myotonica type 2 [DM2]). RNA-binding proteins adhere to transcripts of the repeat expansions that accumulate in the nucleus, and a trans-dominant dysregulation of pre-mRNA alternative splicing has been demonstra ...[more]