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

Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy.

Archives of neurology - 1 Mar 2002

Nakamoto Mika, Nakano Satoshi, Kawashima Shingo, Ihara Masafumi, Nishimura Yo, Shinde Akiyo, Kakizuka Akira

Abstract excerpt

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset autosomal dominant muscle disease with a worldwide distribution. Recent findings reveal the genetic basis of this disease to be mutations in the polyA binding-protein 2 (PABP2) gene that involve short expansions of the GCG tr...

Read the complete abstract on PubMed

Topics

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

Share to Crosses, Genetic
Share to DNA Transposable Elements
Share to Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Dystrophies

Share to Poly(A)-Binding Proteins

Share to Repetitive Sequences, Nucleic Acid

Share to RNA-Binding Proteins

Source

Identifiers

PMID: 11890856
DOI: 10.1001/archneur.59.3.474

Genes

GCG
GCA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11890856-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy.PMID 11890856Read ↗

Study of a Taiwanese family with oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism.Semantic proximity Read ↗

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene.Semantic proximity Read ↗

Oculopharyngeal muscle dystrophy: fine structure and mRNA expression levels of PABPN1.Semantic proximity Read ↗

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

A GCG expansion (GCG)₁₁ in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family.Semantic proximity Read ↗

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

Variability of the recessive oculopharyngeal muscular dystrophy phenotype.Semantic proximity Read ↗

A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

[From gene to disease; the PABN1 gene and 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.