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Article

A unifying genetic model for facioscapulohumeral muscular dystrophy.

Science (New York, N.Y.) - 24 Sept 2010

Lemmers Richard J L F, van der Vliet Patrick J, Klooster Rinse, Sacconi Sabrina, Camaño Pilar, Dauwerse Johannes G, Snider Lauren, Straasheijm Kirsten R, van Ommen Gert Jan, Padberg George W, Miller Daniel G, Tapscott Stephen J, Tawil Rabi, Frants Rune R, van der Maarel Silvère M

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy in adults that is foremost characterized by progressive wasting of muscles in the upper body. FSHD is associated with contraction of D4Z4 macrosatellite repeats on chromosome 4q35, but this contraction is pathoge...

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Share to Chromosomes, Human, Pair 10
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Muscular Dystrophy, Facioscapulohumeral

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Share to Repetitive Sequences, Nucleic Acid

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Source

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Identifiers

PMID: 20724583
DOI: 10.1126/science.1189044
PMCID: PMC4677822

Genes

DUX4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20724583-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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