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

Association of 4qA-Specific Distal D4Z4 Hypomethylation With Disease Severity and Progression in Facioscapulohumeral Muscular Dystrophy

24 May 2023

Abstract excerpt

BACKGROUND AND OBJECTIVES: The objective of this study was to examine whether the regional methylation levels at the most distal D4Z4 repeat units (RU) in the 4qA-permissive haplotype were associated with disease severity and progression in facioscapulohumeral muscular dystrophy type 1 (FSHD1). METHODS: This 21-year, retrospective, observational cohort study was conducted at the Fujian Neuromedical Center (FNMC)...

Read the complete abstract on PubMed

Topics

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

Share to Connective tissue disorders research
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: 37225433
DOI: 10.1212/wnl.0000000000207418

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Association of 4qA-Specific Distal D4Z4 Hypomethylation With Disease Severity and Progression in Facioscapulohumeral Muscular DystrophyPMID 37225433Read ↗

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 ↗

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

D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD PatientsSemantic proximity Read ↗

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

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

A Pediatric Review of Facioscapulohumeral Muscular DystrophySemantic proximity Read ↗

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

The D4Z4caster DNA methylation signature identifies individuals at epigenetic risk for developing facioscapulohumeral muscular dystrophy (FSHD)Semantic proximity Read ↗

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

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

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patientsSemantic proximity Read ↗

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

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