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Article

FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease.

Journal of medical genetics - 1 Nov 2010

Tsumagari K, Chen D, Hackman J R, Bossler A D, Ehrlich M

Abstract excerpt

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease associated with contraction of arrays of tandem 3.3-kb units (D4Z4) on subtelomeric 4q. Disease-linked arrays usually have fewer than 11 repeat units. Equally short D4Z4 arrays at subtelomeric 10q are not linked to FSHD. The newly described 4qA161 haplotype, which is more prevalent in pathogenic 4q alleles, involves...

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Share to Chromosomes, Human, Pair 4
Share to Muscular Dystrophy, Facioscapulohumeral

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

Share to Polymorphism, Restriction Fragment Length

Share to Reproducibility of Results

Share to Sensitivity and Specificity

Share to Sequence Homology, Nucleic Acid

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Source

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Identifiers

PMID: 20710047
DOI: 10.1136/jmg.2009.076703
PMCID: PMC3043595

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease.PMID 20710047Read ↗

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