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 mutation and phenotypic spectrum in muscle-eye-brain disease.

Journal of medical genetics - 1 Oct 2004

Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns W B, Dieguez J, Valanne L, Joensuu T, Lehesjoki A-E

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Brain
Share to Eye Abnormalities
Share to Finland

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Founder Effect

Share to Introns

Share to Muscular Dystrophies

Share to N-Acetylglucosaminyltransferases

Source

Open in PubMed Open full text

Identifiers

PMID: 15466003
DOI: 10.1136/jmg.2004.020701
PMCID: PMC1735594

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.PMID 15466003Read ↗

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.Semantic proximity Read ↗

Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.Semantic proximity Read ↗

Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.Semantic proximity Read ↗

Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.Semantic proximity Read ↗

Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case Report.Semantic proximity Read ↗

Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.Semantic proximity Read ↗

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.Semantic proximity Read ↗

Expanding the clinical phenotype of DYT5 mutations: is multiple system atrophy a possible one?Semantic proximity Read ↗

A genetic model for muscle–eye–brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)Semantic proximity Read ↗

New phenotype caused by POMGNT2 mutations.Semantic proximity Read ↗

Muscle-eye-brain disease and Walker-Warburg syndrome: phenotype-genotype speculations. Commentary to Pihko's paper (pp. 57-61)Semantic proximity Read ↗

Movement disorders in 2016: from genes to phenotypes.Semantic proximity Read ↗

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