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

Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears

13 Oct 2014

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) has been classified as an autosomal dominant myopathy, linked to rearrangements in an array of 3.3 kb tandemly repeated DNA elements (D4Z4) located at the 4q subtelomere (4q35). For the last 20 years, the diagnosis of FSHD has been confirmed in clinical practice by the detection of one D4Z4 allele with a reduced number (≤8) of repeats at 4q35. Although wide inter- and...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Neurodegenerative Diseases
Share to Muscle Physiology and Disorders
Share to Parkinson's Disease and Spinal Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25323867
DOI: 10.2174/1566524014666141010155054

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Facioscapulohumeral Muscular Dystrophy: More Complex than it AppearsPMID 25323867Read ↗

Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.Semantic proximity Read ↗

[Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012].Semantic proximity Read ↗

Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.Semantic proximity Read ↗

Facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophySemantic proximity Read ↗

[Facioscapulohumeral muscular dystrophy. Clinical picture, atypical forms, diagnostics, genetics].Semantic proximity Read ↗

[Role of associated alleles and hypomethylation status in the clinical expression of facioscapulohumeral muscular dystrophy].Semantic proximity Read ↗

Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation.Semantic proximity Read ↗

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers.Semantic proximity Read ↗

Clinical features of facioscapulohumeral muscular dystrophy 2.Semantic proximity Read ↗

[Facioscapulohumeral muscular dystrophy. The spectrum of clinical manifestations and molecular genetic changes].Semantic proximity Read ↗

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