Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing

Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing

Myotonic dystrophy type 1 (DM1) is a serious multisystem disorder caused by GCA repeat expansions in the DMPK gene. Early and accurate diagnosis, often requiring reliable DNA-diagnostic techniques, is critical for preventing life-threatening cardiac complications. Clinically, two main diagnostic cha...

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Bibliographic Details
Main Authors: Ingrid Lojova, Marcel Kucharik, Zuzana Pös, Andrej Balaz, Andrea Zatkova, Eva Tothova Tarova, Jaroslav Budis, Ludevit Kadasi, Tomas Szemes, Jan Radvanszky
Format: Article
Language:English
Published: Elsevier 2025-02-01
Series:Molecular and Cellular Probes
Subjects:
Massively parallel sequencing
Myotonic dystrophy type 1
Repeat expansion disorders
Tandem repeats
Whole genome sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S0890850824000574
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