A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)(n) in intron 1 of the CNBP gene. The CCTG repeat tract is part of a complex (TG)(v)(TCTG)(w)(CCTG)(x)(NCTG)(y)(CCTG)(z) motif generally interrupted in CNBP healthy range alleles. Here we report our 14-year experience of D...

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Detalles Bibliográficos
Autores principales: Botta, Annalisa, Visconti, Virginia Veronica, Fontana, Luana, Bisceglia, Paola, Bengala, Mario, Massa, Roberto, Bagni, Ilaria, Cardani, Rosanna, Sangiuolo, Federica, Meola, Giovanni, Antonini, Giovanni, Petrucci, Antonio, Pegoraro, Elena, D’Apice, Maria Rosaria, Novelli, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255792/
https://www.ncbi.nlm.nih.gov/pubmed/34234810
http://dx.doi.org/10.3389/fgene.2021.668094

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255792/
https://www.ncbi.nlm.nih.gov/pubmed/34234810
http://dx.doi.org/10.3389/fgene.2021.668094

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