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

Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.

International journal of molecular sciences - 23 Mar 2020

Salort-Campana Emmanuelle, Fatehi Farzad, Beloribi-Djefaflia Sadia, Roche Stéphane, Nguyen Karine, Bernard Rafaelle, Cintas Pascal, Solé Guilhem, Bouhour Françoise, Ollagnon Elisabeth, Sacconi Sabrina, Echaniz-Laguna Andoni, Kuntzer Thierry, Levy Nicolas, Magdinier Frédérique, Attarian Shahram

Abstract excerpt

Molecular defects in type 1 facioscapulohumeral muscular dystrophy (FSHD) are caused by a heterozygous contraction of the D4Z4 repeat array from 1 to 10 repeat units (RUs) on 4q35. This study compared (1) the phenotype and severity of FSHD1 between patients carrying 6-8 vs. 9-10 RUs, (2) the amount of methylation in different D4Z4 regions between patients with FSHD1 with different clinical severity scores (CSS)....

Read the complete abstract on PubMed

Topics

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

Share to Attention
Share to Cross-Sectional Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Genetic Association Studies

Share to Muscular Dystrophy, Facioscapulohumeral

Share to Penetrance

Share to Repetitive Sequences, Nucleic Acid

Share to Severity of Illness Index

Source

Open in PubMed Open full text

Identifiers

PMID: 32210100
DOI: 10.3390/ijms21062221
PMCID: PMC7139460

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.PMID 32210100Read ↗

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats.Semantic proximity Read ↗

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Predictive value of D4Z4 methylation levels for phenotypic heterogeneity and disease progression in Facioscapulohumeral Muscular Dystrophy with borderline D4Z4 repeat units: a retrospective cohort study.Semantic proximity Read ↗

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

Association of 4qA-Specific Distal D4Z4 Hypomethylation With Disease Severity and Progression in Facioscapulohumeral Muscular DystrophySemantic proximity Read ↗

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.Semantic proximity Read ↗

Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy.Semantic proximity Read ↗

Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1.Semantic proximity Read ↗

Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophySemantic proximity Read ↗

The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases.Semantic proximity Read ↗

Hypomethylation of contracted D4Z4 repeats in facioscapulohumeral muscular dystrophySemantic proximity Read ↗

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

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