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Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene

12 Jan 2021

Abstract excerpt

Background Facioscapulohumeral dystrophy (FSHD) is an inherited muscular dystrophy clinically characterised by muscle weakness starting with the facial and upper extremity muscles. A disease model has been developed that postulates that failure in somatic repression of the transcription factor DUX4 embedded in the D4Z4 repeat on chromosome 4q causes FSHD. However, due to the position of the D4Z4 repeat close to...

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PMID: 33436523
DOI: 10.1136/jmedgenet-2020-107041

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