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

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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.

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Acknowledgements

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

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Authors and Affiliations

  1. Department of Biomedical Sciences for Health, University of Milan, IRCCS Policlinico San Donato, Piazza E. Malan, 1, San Donato Mil., 20097, Milan, Italy

    Giovanni Meola

  2. Department of Neurology, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy

    Giovanni Meola

  3. Laboratory of Muscle Histopathology and Molecular Biology, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy

    Rosanna Cardani

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  1. Giovanni Meola
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Correspondence to Giovanni Meola.

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Meola, G., Cardani, R. Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects. Neurol Sci 38, 535–546 (2017). https://doi.org/10.1007/s10072-016-2805-5

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