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Article

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.

Neurology - 4 Sept 2007

de Greef J C, Wohlgemuth M, Chan O A, Hansson K B, Smeets D, Frants R R, Weemaes C M, Padberg G W, van der Maarel S M

Abstract excerpt

BACKGROUND: Patients with facioscapulohumeral muscular dystrophy (FSHD) show a contraction of the D4Z4 repeat array in the subtelomere of chromosome 4q. This D4Z4 contraction is associated with significant allele-specific hypomethylation of the repeat. Hypomethylation of D4Z4 is also observed in patients with phenotypic FSHD without contraction of D4Z4 and in patients with the immunodeficiency, centromeric...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Facioscapulohumeral

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Source

Identifiers

PMID: 17785671
DOI: 10.1212/01.wnl.0000271391.44352.fe

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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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Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.PMID 17785671Read ↗

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Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)Semantic proximity Read ↗

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Hypomethylation of contracted D4Z4 repeats in facioscapulohumeral muscular dystrophySemantic proximity Read ↗

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.Semantic proximity Read ↗

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.Semantic proximity Read ↗

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