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Aberrant Myokine Signaling in Congenital Myotonic Dystrophy

1 Oct 2017

Abstract excerpt

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...

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PMID: 29091763
DOI: 10.1016/j.celrep.2017.10.018

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