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The D4Z4caster DNA methylation signature identifies individuals at epigenetic risk for developing facioscapulohumeral muscular dystrophy (FSHD)

2026-05-29

Abstract excerpt

<h4>Background</h4> Facioscapulohumeral muscular dystrophy (FSHD) is caused by epigenetic dysregulation at the chromosome 4q35 D4Z4 repeat array under specific permissive genetic conditions. Due to the complexity, expense, and general inaccessibility of FSHD genetic testing, many individuals displaying characteristic muscle weakness are never genetically confirmed and at-risk relatives cannot get screened. We pre...

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Literature Corpus work
239bb742-6cc9-597a-805e-8129d01d1cd3
DOI
10.64898/2026.05.26.727947
Open publication

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The D4Z4caster DNA methylation signature identifies individuals at epigenetic risk for developing facioscapulohumeral muscular dystrophy (FSHD)DOI 10.64898/2026.05.26.727947
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