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Article

Genetic and epigenetic contributors to FSHD.

Current opinion in genetics & development - 1 Aug 2015

Daxinger Lucia, Tapscott Stephen J, van der Maarel Silvère M

Abstract excerpt

Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscle disorder characterized by distinct chromatin changes including DNA hypomethylation of the D4Z4 macrosatellite repeat array on a disease-permissive 4qA allele and aberrant expression of the D4Z4-embedded DUX4 retrogene in skeletal muscle. Insufficient epigenetic repression of the D4Z4 repeat is the result of at least two different genetic...

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Share to Chromosomal Proteins, Non-Histone
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epigenesis, Genetic

Share to Homeodomain Proteins

Share to Microsatellite Repeats

Share to Muscle, Skeletal

Share to Muscular Dystrophy, Facioscapulohumeral

Source

Open in PubMed Open full text

Identifiers

PMID: 26356006
DOI: 10.1016/j.gde.2015.08.007
PMCID: PMC4674299

Genes

DUX4
SMCHD1

Provenance

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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