Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles

Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles

Myotonic dystrophy type 2 (DM2) is caused by expansion of a (CCTG)<sub>n</sub> repeat in the cellular retroviral nucleic acid-binding protein (CNBP) gene. The sequence of the repeat is most commonly interrupted and is stably inherited in the general population. Although expanded alleles,...

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Bibliographic Details
Main Authors: Jan Radvanszky, Michaela Hyblova, Eva Radvanska, Peter Spalek, Alica Valachova, Gabriela Magyarova, Csaba Bognar, Emil Polak, Tomas Szemes, Ludevit Kadasi
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Journal of Clinical Medicine
Subjects:
cellular retroviral nucleic acid-binding protein
<i>CNBP</i>
DM2
expansion
myotonic dystrophy type 2
premutation
Online Access:https://www.mdpi.com/2077-0383/10/17/3934

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