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

Myotonic dystrophy type 2 (DM2) is caused by expansion of a (CCTG)(n) 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, premutation range an...

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Detalles Bibliográficos
Autores principales: Radvanszky, Jan, Hyblova, Michaela, Radvanska, Eva, Spalek, Peter, Valachova, Alica, Magyarova, Gabriela, Bognar, Csaba, Polak, Emil, Szemes, Tomas, Kadasi, Ludevit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8432210/
https://www.ncbi.nlm.nih.gov/pubmed/34501382
http://dx.doi.org/10.3390/jcm10173934

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8432210/
https://www.ncbi.nlm.nih.gov/pubmed/34501382
http://dx.doi.org/10.3390/jcm10173934

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