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Article

Facioscapulohumeral muscular dystrophy.

Biochimica et biophysica acta - 1 Apr 2015

Sacconi Sabrina, Salviati Leonardo, Desnuelle Claude

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical and asymmetric pattern of muscle involvement and disease progression. Two forms of FSHD, FSHD1 and FSHD2, have been identified displaying identical clinical phenotype but different genetic and epigenetic basis. Autosomal dominant FSHD1 (95% of patients) is characterized by chromatin relaxation induced by pathogenic contraction of a...

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Topics

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Share to Chromatin
Share to Chromatin Assembly and Disassembly
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 4

Share to Genetic Diseases, Inborn

Share to Genetic Loci

Share to Muscular Dystrophies

Share to Repetitive Sequences, Nucleic Acid

Source

Identifiers

PMID: 24882751
DOI: 10.1016/j.bbadis.2014.05.021

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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