Whilst a disease-modifying treatment for Facioscapulohumeral muscular dystrophy (FSHD)
does not exist currently, recent advances in complex molecular pathophysiology studies of …

Facioscapulohumeral muscular dystrophy (FSHD) is a disabling inherited muscular disorder
characterized by asymmetric, progressive muscle weakness and degeneration. Patients …

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 …

This international multidisciplinary document is intended to guide electrophysiologists,
cardiologists, other clinicians, and health care professionals in caring for patients with …

Objectives Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically
linked to reduced numbers (≤ 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases …

The molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD) relies on
detecting contractions of the unique D4Z4 repeat array at the chromosome 4q35 locus in the …

Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral
dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been …

Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic disease associated with
epigenetic alterations in the subtelomeric heterochromatin of the D4Z4 macrosatellite …

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical and
asymmetric pattern of muscle involvement and disease progression. Two forms of FSHD …