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Article

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.

Neurology - 20 Feb 2007

Osborne R J, Welle S, Venance S L, Thornton C A, Tawil R

Abstract excerpt

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is caused by deletions within a tandem array of D4Z4 repeats on chromosome 4q35. In addition to muscle degeneration, most patients with FSHD develop abnormalities of the retinal vasculature. Previous work has suggested that muscle degeneration in FSHD results from increased expression of genes proximal to the deletion, including FRG1. OBJECTIVES: To...

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Share to Chromosomes, Human, Pair 4
Share to Gene Expression Profiling
Share to Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Muscle, Skeletal

Share to Muscular Dystrophy, Facioscapulohumeral

Share to Oligonucleotide Array Sequence Analysis

Share to Retinal Diseases

Source

Identifiers

PMID: 17151338
DOI: 10.1212/01.wnl.0000251269.31442.d9

Genes

FRG1

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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Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.PMID 17151338Read ↗

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