Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Pediatric Review of Facioscapulohumeral Muscular Dystrophy

17 Jul 2017

Abstract excerpt

Abstract Facioscapulohumeral dystrophy is one of the most common forms of muscular dystrophies worldwide. It is a complex and heterogeneous disease secondary to insufficient epigenetic repression of D4Z4 repeats and aberrant expression of DUX4 in skeletal muscles. Type 1 facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of D4Z4 repeats on 4q35, whereas type 2 FSHD is associated with mutations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy and Myosin Studies
Share to Muscle Physiology and Disorders
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30923442
DOI: 10.1055/s-0037-1604197

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Pediatric Review of Facioscapulohumeral Muscular DystrophyPMID 30923442Read ↗

Facioscapulohumeral Muscular DystrophySemantic proximity Read ↗

Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings.Semantic proximity Read ↗

Facioscapulohumeral Muscular Dystrophy.Semantic proximity Read ↗

Facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscleSemantic proximity Read ↗

Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities.Semantic proximity Read ↗

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible TreatmentsSemantic proximity Read ↗

Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions.Semantic proximity Read ↗

Facioscapulohumeral dystrophy: the path to consensus on pathophysiologySemantic proximity Read ↗

Facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.