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Article

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.

European journal of human genetics : EJHG - 1 Sept 2012

Raducu Madalina, Baets Jonathan, Fano Oihane, Van Coster Rudy, Cruces Jesús

Abstract excerpt

Limb-girdle muscular dystrophy type 2O (LGMD2O) belongs to a group of rare muscular dystrophies named dystroglycanopathies, which are characterized molecularly by hypoglycosylation of α-dystroglycan (α-DG). Here, we describe the first dystroglycanopathy patient carrying an alteration in the promoter region of the POMGNT1 gene (protein O-mannose β-1,2-N-acetylglucosaminyltransferase 1), which involves a homozygous...

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Source

Open in PubMed Open full text

Identifiers

PMID: 22419172
DOI: 10.1038/ejhg.2012.40
PMCID: PMC3421125

Genes

POMGNT1

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

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Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.PMID 22419172Read ↗

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