The muscular dystrophies are a group of heterogeneous genetic diseases characterized by
progressive degeneration and weakness of skeletal muscle. Since the discovery of the first …

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

Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often
accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia …

Advances in human genetics in recent years have largely been driven by next-generation
sequencing (NGS); however, the discovery of disease-related gene mutations has been …

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the
D4Z4 repeat array on chromosome 4 to a size of 1–10 units. The residual number of D4Z4 …

Facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy caused by
inefficient epigenetic repression of the D4Z4 macrosatellite array and somatic expression of …

Facioscapulohumeral muscular dystrophy (FSHD), a progressive myopathy that afflicts
individuals of all ages, provides a powerful model of the complex interplay between genetic …

The Double homeobox 4 (DUX4) gene is an important regulator of early human
development and its aberrant expression is causal for facioscapulohumeral muscular …

Defects in mRNA 3′ end formation have been described to alter transcription termination,
transport of the mRNA from the nucleus to the cytoplasm, stability of the mRNA and …

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant or digenic
disorder linked to derepression of the toxic DUX4 gene in muscle. There is currently no …