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

POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.

Methods in enzymology - 1 Jan 2010

Endo Tamao, Manya Hiroshi, Seta Nathalie, Guicheney Pascale

Abstract excerpt

Alpha-dystroglycanopathies are a group of rare inherited neuromuscular disorders characterized by reduced glycosylation of alpha-dystroglycan (alpha-DG). Mutations in six genes (POMT1, POMT2, POMGNT1, FKTN, FKRP, and LARGE) have been identified in patients with alpha-dystroglycanopathies. Due to an extremely broad clinical spectrum and relatively poor phenotype-genotype correlation, diagnosis of...

Read the complete abstract on PubMed

Topics

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

Share to Cells, Cultured
Share to FKRP gene
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mannosyltransferases

Share to Muscular Dystrophies

Share to Mutation

Share to N-Acetylglucosaminyltransferases

Source

Identifiers

PMID: 20816175
DOI: 10.1016/S0076-6879(10)79019-4

Genes

POMT1
POMT2
FKRP
FKTN
POMGNT1

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

POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.PMID 20816175Read ↗

POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.Semantic proximity Read ↗

Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.Semantic proximity Read ↗

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

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

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.Semantic proximity Read ↗

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.Semantic proximity Read ↗

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.Semantic proximity Read ↗

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.Semantic proximity Read ↗

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

Muscular dystrophies due to glycosylation defects.Semantic proximity Read ↗

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.Semantic proximity Read ↗

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

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