High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis

BACKGROUND: Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansions in the DMPK gene and is the most common form of muscular dystrophy. Patients can have long delays from onset to diagnosis, since clinical signs and symptoms are often nonspecific and overlapping with other disorders. Clin...

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Detalles Bibliográficos
Autores principales: Butterfield, Russell J., Imburgia, Carina, Mayne, Katie, Newcomb, Tara, Dunn, Diane M., Duval, Brett, Feldkamp, Marcia L., Johnson, Nicholas E., Weiss, Robert B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123750/
https://www.ncbi.nlm.nih.gov/pubmed/33624941
http://dx.doi.org/10.1002/mgg3.1619

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123750/
https://www.ncbi.nlm.nih.gov/pubmed/33624941
http://dx.doi.org/10.1002/mgg3.1619

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