Advances in the molecular understanding of facioscapulohumeral muscular dystrophy
(FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in …

A reliable model of a disease pathomechanism is the first step to develop targeted treatment.
In facioscapulohumeral muscular dystrophy (FSHD), the third most common muscular …

Facioscapulohumeral dystrophy (FSHD) is associated with somatic chromatin relaxation of
the D4Z4 repeat array and derepression of the D4Z4-encoded DUX4 retrogene coding for a …

Importance To our knowledge, the efficacy of transferring next-generation sequencing from a
research setting to neuromuscular clinics has never been evaluated. Objective To translate …

Facioscapulohumeral muscular dystrophy (FSHD: MIM# 158900) is a common myopathy
with marked but largely unexplained clinical inter-and intra-familial variability. It is caused by …

Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal
muscle weakness and wasting. FSHD is linked to epigenetic derepression of the …

Facioscapulohumeral muscular dystrophy (FSHD) is an inherited and progressive muscle
disorder. Although its name suggests otherwise, it comprises weakness of the facial …

Abstract Purpose of Review: This article describes the clinical characteristics, diagnosis,
molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD) …

Although the pathophysiology of facioscapulohumeral dystrophy (FSHD) has been
controversial over the last decades, progress in recent years has led to a model that …

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent myopathies,
affecting males and females of all ages. Both forms of the disease are linked by epigenetic …