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

[Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion].

Rinsho shinkeigaku = Clinical neurology - 1 Sept 2003

Nakashima Dainari, Nakajima Hideto, Ishida Shimon, Sugino Masakazu, Kimura Fumiharu, Hanafusa Toshiaki

Abstract excerpt

We reported a 52-year-old woman with oculopharyngeal muscular dystrophy (OPMD) harboring expanded (GCG) 13 mutation of the poly (A) binding protein 2 gene. She presented not only ptosis and dysphagia but distal dominant muscle atrophy in four extremities. CT demonstrated distal muscle atrophy with marked fat replacement in the biceps femoris, semitendinosus, membraneous, soleus, and gastrocnemius muscles....

Read the complete abstract on PubMed

Topics

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

Share to Electromyography
Share to GCG gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Atrophy

Share to Muscular Dystrophy, Oculopharyngeal

Share to Mutation

Share to Pedigree

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 14727564

Genes

GCG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion].PMID 14727564Read ↗

[A family with oculopharyngeal muscular dystrophy with (GCG)9 expansion in which a sister had neck as well as proximal and her brother proximal lower limb muscle weakness].Semantic proximity Read ↗

[Oculopharyngeal muscular dystrophy: study of patients from seven Spanish families with different GCG expansions in PABP2 gene].Semantic proximity Read ↗

Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients.Semantic proximity Read ↗

[A late-onset case of oculopharyngeal muscular dystrophy carrying a (GCG)8 repeat expansion in the PAPBN1 gene].Semantic proximity Read ↗

[Proximal weakness and exercise-induced pain as initial symptom of oculopharyngeal muscular dystrophy].Semantic proximity Read ↗

Neurogenic involvement in a case of oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

Oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

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

Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

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

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

[From gene to disease; the PABN1 gene and oculopharyngeal muscular dystrophy].Semantic proximity Read ↗

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