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

Muscular dystrophies due to glycosylation defects.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics - 1 Oct 2008

Muntoni Francesco, Torelli Silvia, Brockington Martin

Abstract excerpt

In the last few years, muscular dystrophies due to reduced glycosylation of alpha-dystroglycan (ADG) have emerged as a common group of conditions, now referred to as dystroglycanopathies. Mutations in six genes (POMT1, POMT2, POMGnT1, Fukutin, FKRP and LARGE) have so far been identified in patients with a dystroglycanopathy. Allelic mutations in each of these genes can result in a wide spectrum of clinical...

Read the complete abstract on PubMed

Topics

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

Share to Dystroglycans
Share to Gene Expression Regulation
Share to FKRP gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycosylation

Share to Mutation

Share to Myotonic Dystrophy

Source

Open in PubMed Open full text

Identifiers

PMID: 19019316
DOI: 10.1016/j.nurt.2008.08.005
PMCID: PMC4514705

Genes

FKRP
LARGE2
POMT1
POMT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Muscular dystrophies due to glycosylation defects.PMID 19019316Read ↗

Muscular dystrophies due to defective glycosylation of dystroglycan.Semantic proximity Read ↗

Muscular dystrophies due to glycosylation defectsSemantic proximity Read ↗

Journey into muscular dystrophies caused by abnormal glycosylation.Semantic proximity Read ↗

Glycosylation defects in inherited muscle disease.Semantic proximity Read ↗

Defective glycosylation in congenital muscular dystrophies.Semantic proximity Read ↗

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.Semantic proximity Read ↗

Protein glycosylation in disease: new insights into the congenital muscular dystrophies.Semantic proximity Read ↗

[Recent Advances in α-dystroglycanopathy].Semantic proximity Read ↗

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.Semantic proximity Read ↗

Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane.Semantic proximity Read ↗

Genetic defects in muscular dystrophy.Semantic proximity Read ↗

The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophySemantic proximity Read ↗

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