Key result
Facioscapulohumeral muscular dystrophy results from genetic and epigenetic changes on 4q35 that release repression of DUX4, causing disease in a toxic gain-of-function manner.
Population
Facioscapulohumeral muscular dystrophy (FSHD)
Design
Review
Authors
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Informs FSHD molecular diagnosis; leaves open DUX4-targeted therapy efficacy pending trials.
This review highlights the molecular genetic mechanisms of FSHD, specifically the role of D4Z4 repeat contraction and DUX4 expression.
Statland et al. (2011) conducted a review in Facioscapulohumeral muscular dystrophy. Facioscapulohumeral muscular dystrophy results from genetic and epigenetic changes on 4q35 that release repression of DUX4, causing disease in a toxic gain-of-function manner.
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