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

Defective glycosylation in congenital muscular dystrophies.

Current opinion in neurology - 1 Apr 2004

Muntoni Francesco, Brockington Martin, Torelli Silvia, Brown Susan C

Abstract excerpt

PURPOSE OF REVIEW: The recent identification of mutations in five genes coding for proteins with putative or demonstrated glycosyltransferase activity has shed light on a novel mechanism responsible for muscular dystrophy. Abnormal glycosylation of alpha-dystroglycan appears to be a common finding in all these conditions. Surprisingly, the disease severity due to mutations in several of these genes is extremely...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to DNA Mutational Analysis
Share to Glycogen

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycosylation

Share to Glycosyltransferases

Share to Muscle, Skeletal

Share to Muscular Dystrophies

Share to Ophthalmoplegia, Chronic Progressive External

Source

Identifiers

PMID: 15021250
DOI: 10.1097/00019052-200404000-00020

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

Defective glycosylation in congenital muscular dystrophies.PMID 15021250Read ↗

Glycosylation defects in inherited muscle disease.Semantic proximity Read ↗

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

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

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

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

Muscular dystrophies due to glycosylation defectsSemantic proximity Read ↗

Muscular dystrophies due to glycosylation defects.Semantic proximity Read ↗

Genetic defects in muscular dystrophy.Semantic proximity Read ↗

Congenital disorders of glycosylation: new defects and still counting.Semantic proximity Read ↗

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

Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycanSemantic proximity Read ↗

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.Semantic proximity Read ↗

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