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Article

Journey into muscular dystrophies caused by abnormal glycosylation.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Sept 2004

Muntoni Francesco

Abstract excerpt

An increasing number of genes encoding for putative or demonstrated glycosyltransferases are being associated with muscular dystrophies of variable severity, ranging from severe congenital onset and associated structural eye and brain changes, to relatively mild forms with onset into adulthood. Five of these genes (POMT1; POMGnT1; FXRP; Fukutin; LARGE) encode for proteins involved in the glycosylation of...

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Share to DNA Mutational Analysis
Share to Dystroglycans
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycogen

Share to Glycosylation

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Source

Identifiers

PMID: 15605948

Genes

GNE
POMT1

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.

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