Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.

doi:10.1093/brain/awad312

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Article

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.

Brain : a journal of neurology - 1 Feb 2024

Lemmers Richard J L F, Butterfield Russell, van der Vliet Patrick J, de Bleecker Jan L, van der Pol Ludo, Dunn Diane M, Erasmus Corrie E, D'Hooghe Marc, Verhoeven Kristof, Balog Judit, Bigot Anne, van Engelen Baziel, Statland Jeffrey, Bugiardini Enrico, van der Stoep Nienke, Evangelista Teresinha, Marini-Bettolo Chiara, van den Bergh Peter, Tawil Rabi, Voermans Nicol C, Vissing John, Weiss Robert B, van der Maarel Silvère M

Abstract excerpt

Facioscapulohumeral dystrophy (FSHD) has a unique genetic aetiology resulting in partial chromatin relaxation of the D4Z4 macrosatellite repeat array on 4qter. This D4Z4 chromatin relaxation facilitates inappropriate expression of the transcription factor DUX4 in skeletal muscle. DUX4 is encoded by a retrogene that is embedded within the distal region of the D4Z4 repeat array. In the European population, the D4Z4...

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PMID: 37703328
DOI: 10.1093/brain/awad312
PMCID: PMC10834250

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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