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

Late onset oculopharyngeal muscular dystrophy with prominent neurogenic features and short GCG trinucleotide expansion.

Muscle & nerve - 1 Jan 2011

Piccolo Giovanni, Cortese Andrea, Tavazzi Eleonora, Piccolo Laura, Sassone Jenny, Ciammola Andrea, Alfonsi Enrico, Colombo Ilaria, Moggio Maurizio

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 Age of Onset
Share to Aged, 80 and over
Share to GCG gene
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Dystrophy, Oculopharyngeal

Share to Peripheral Nervous System Diseases

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 21171103
DOI: 10.1002/mus.21842

Genes

GCG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Late onset oculopharyngeal muscular dystrophy with prominent neurogenic features and short GCG trinucleotide expansion.PMID 21171103Read ↗

Oculopharyngeal muscular dystrophy: Recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategiesSemantic proximity Read ↗

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal MyopathySemantic proximity Read ↗

Oculopharyngodistal myopathy.Semantic proximity Read ↗

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophySemantic proximity Read ↗

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease.Semantic proximity Read ↗

Oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.Semantic proximity Read ↗

SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia.Semantic proximity Read ↗

Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophySemantic proximity Read ↗

Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa.Semantic proximity Read ↗

Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a Chinese population.Semantic proximity Read ↗

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