Article

A haplotype-based approach for myotonic dystrophy type 1 identification

2026-07-13

Abstract excerpt

<h4>Background</h4> Myotonic dystrophy type 1 (DM1) is caused by a CTG repeat expansion in the DMPK gene and represents the most common adult-onset myopathy. Current molecular diagnostics rely on labor-intensive assays that limit accessibility and scalability. Haplotype-based approaches offer a promising alternative for detecting pathogenic expansions indirectly. <h4>Methods</h4> We performed genome-wide genot...

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Literature Corpus work: 867e5344-ef89-5e18-91fc-5dad9c5f7b65
DOI: 10.64898/2026.07.09.26357389

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