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Article

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.

Clinical genetics - 1 Jun 2020

Greco Anna, Goossens Remko, van Engelen Baziel, van der Maarel Silvère M

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD), a common hereditary myopathy, is caused either by the contraction of the D4Z4 macrosatellite repeat at the distal end of chromosome 4q to a size of 1 to 10 repeat units (FSHD1) or by mutations in D4Z4 chromatin modifiers such as Structural Maintenance of Chromosomes Hinge Domain Containing 1 (FSHD2). These two genotypes share a phenotype characterized by progressive...

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Share to Chromosomes, Human, Pair 4
Share to Epigenesis, Genetic
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Muscle Physiology and Disorders

Share to Muscle, Skeletal

Share to Muscular Dystrophy, Facioscapulohumeral

Share to Mutation

Source

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Identifiers

PMID: 32086799
DOI: 10.1111/cge.13726
PMCID: PMC7318180

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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