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Article

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

Molecular and cellular probes - 1 Feb 2025

Lojova Ingrid, Kucharik Marcel, Pös Zuzana, Balaz Andrej, Zatkova Andrea, Tothova Tarova Eva, Budis Jaroslav, Kadasi Ludevit, Szemes Tomas, Radvanszky Jan

Abstract excerpt

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 challenges exist. Firstly, because of overlapping symptomatology with other conditions, conventional DNA-testing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39710066
DOI: 10.1016/j.mcp.2024.102005

Genes

DMPK
GCA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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