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

Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene.

Neurology - 14 Nov 2000

Blumen S C, Korczyn A D, Lavoie H, Medynski S, Chapman J, Asherov A, Nisipeanu P, Inzelberg R, Carasso R L, Bouchard J P, Tomé F M, Rouleau G A, Brais B

Abstract excerpt

OBJECTIVE: To determine whether all cases of oculopharyngeal muscular dystrophy (OPMD) among Bukhara Jews share the same founder mutation. BACKGROUND: Autosomal dominant OPMD is caused by a (GCG)8-13 repeat expansion in the polyadenylation binding protein 2 (PABP2) gene. The disease has a worldwide distribution but is particularly prevalent in Bukhara Jews and in French Canadians, in whom it was introduced by...

Read the complete abstract on PubMed

Topics

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

Share to GCG gene
Share to Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Muscular Dystrophies

Share to Mutation

Share to Poly(A)-Binding Proteins

Share to RNA-Binding Proteins

Source

Identifiers

PMID: 11087766
DOI: 10.1212/wnl.55.9.1267

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

Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene.PMID 11087766Read ↗

Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?Semantic proximity Read ↗

Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.Semantic proximity Read ↗

(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families.Semantic proximity Read ↗

The genetic and clinical characteristics of oculopharyngeal muscular dystrophy patients in Israel.Semantic proximity Read ↗

Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotesSemantic proximity Read ↗

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.Semantic proximity Read ↗

Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD).Semantic proximity Read ↗

Oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

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

Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects.Semantic proximity Read ↗

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

Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.Semantic proximity Read ↗

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