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Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats

14 Jan 2026

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is genetically associated with reduction of the D4Z4 macrosatellite array at 4q35 on a permissive 4qA haplotype, a configuration that enables the stable expression of the DUX4 transcription factor. Current diagnostic and mechanistic models, however, rely heavily on the incomplete GRCh38/hg38 reference and assume that D4Z4 repeats are predominantly confined to 4q35 and...

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Share to Chromosomal and Genetic Variations
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PMID: 41535478
DOI: 10.1038/s41431-025-02000-x

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

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Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeatsPMID 41535478Read ↗

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