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Neurological Sciences

, Volume 38, Issue 4, pp 535–546 | Cite as

Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects

  • Giovanni MeolaEmail author
  • Rosanna Cardani
Review Article

Abstract

Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. To date, two distinct forms caused by similar mutations in two different genes have been identified: myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2). Aberrant transcription and mRNA processing of multiple genes due to RNA-mediated toxic gain-of function has been suggested to cause the complex phenotype in DM1 and DM2. However, despite clinical and genetic similarities, DM1 and DM2 may be considered as distinct disorders. This review is an update on the latest findings specific to DM2, including explanations for the differences in clinical manifestations and pathophysiology between the two forms of myotonic dystrophies.

Keywords

Myotonic dystrophy type 2 Microsatellite expansion Spliceopathy Modifier genes 

Notes

Acknowledgements

This work was supported by CMN—Centro per lo Studio delle Malattie Neuromuscolari and FMM-Fondazione Malattie Miotoniche.

Compliance with ethical standards

Conflict of interest

The authors have no conflict of interest.

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Copyright information

© Springer-Verlag Italia 2016

Authors and Affiliations

  1. 1.Department of Biomedical Sciences for HealthUniversity of Milan, IRCCS Policlinico San DonatoMilanItaly
  2. 2.Department of NeurologyIRCCS Policlinico San DonatoMilanItaly
  3. 3.Laboratory of Muscle Histopathology and Molecular BiologyIRCCS Policlinico San DonatoMilanItaly

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