Dystrophia myotonia: why focus on foci?
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ABSTRACT:
SUBMITTER: Junghans RP
PROVIDER: S-EPMC2986259 | biostudies-literature | 2009 May
REPOSITORIES: biostudies-literature
Publications
Dystrophia myotonia: why focus on foci?
European journal of human genetics : EJHG 20090128 5
Dystrophia myotonia type 1 (DM1; Steinert's disease; myotonic dystrophy) is an autosomal dominant disorder due to a large CTG expansion in the 3'-untranslated region (UTR) of the DM protein kinase (DMPK) gene. Transcription of this gene yields a long CUGn-containing mutant (mut) RNA, in which clinical disease is associated with repeats of n=100-5000. Phenomenologically, the expression of mut RNA is correlated with the morphologic observation of ribonucleoprotein precipitates ('foci') in the nucl ...[more]
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