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Article

Cellular and animal models for facioscapulohumeral muscular dystrophy

1 Oct 2020

Abstract excerpt

ABSTRACT Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy and presents with weakness of the facial, scapular and humeral muscles, which frequently progresses to the lower limbs and truncal areas, causing profound disability. Myopathy results from epigenetic de-repression of the D4Z4 microsatellite repeat array on chromosome 4, which allows misexpression of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33174531
DOI: 10.1242/dmm.046904

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