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

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

Abstract 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 disorde...

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Bibliographic Details
Main Authors: Russell J. Butterfield, Carina Imburgia, Katie Mayne, Tara Newcomb, Diane M. Dunn, Brett Duval, Marcia L. Feldkamp, Nicholas E. Johnson, Robert B. Weiss
Format: Article
Language:English
Published: Wiley 2021-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
DMPK gene
melt curve analysis
myotonic dystrophy
population screening
triplet‐repeat expansion
Online Access:https://doi.org/10.1002/mgg3.1619

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