The Rockefeller University Press $30.00 J. Gen. Physiol. 2017 https://doi.org/10.1085/jgp.201611728 1 In the early 1990s, several genetically inherited disorders were found to result from trinucleotide repeat expansions (increases in the length of normally short regions of trinucleotide CNG repeats, e.g., CAG, CTG, CCG, and CGG). Huntington’s disease (HD; CAG expansions), fragile X syndrome (CG...

EDITOR—Myotonic dystrophy (DM) is the most common form of inherited neuromuscular disease in adults and is characterised by progressive muscle wasting and myotonia. The mutation responsible for DM has been identified as the amplification of a polymorphic (CTG)n repeat in the 3' untranslated region of a gene encoding a serine/threonine kinase (DMPK). The DM trinucleotide repeat is highly polymor...

Myotonic dystrophy protein kinase (DMPK) is a member of the AGC super family of serine/threonine protein kinases (Caenepeel et al., 2004; Manning et al., 2002). The DMPK human gene encodes several alternative spliced protein products believed to be involved in remodeling of the actin cytoskeleton, mitochondrial dynamics, ion homeostasis and nuclear envelope stability. DMPK and its isoforms are ...

BACKGROUND Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic multisystem disorder and the commonest adult-onset form of muscular dystrophy. DM1 results from the expansion of an unstable trinucleotide cytosine-thymine-guanine (CTG) repeat mutation. CTG repeats in DM1 patients can range from 50 to several thousands, with a tendency toward increased repeats with successive generatio...

Myotonic dystrophy type I (DM1) is a multi-system, autosomal dominant disorder caused by expansion of a CTG repeat sequence in the 3'UTR of the DMPK gene. The size of the repeat sequence correlates with age at onset and disease severity, with large repeats leading to congenital forms of DM1 associated with hypotonia and intellectual disability. In models of adult DM1, expanded CUG repeats lead ...