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Article

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a Chinese population.

Neuromolecular medicine - 1 Dec 2014

Shan Jingli, Chen Bin, Lin Pengfei, Li Duoling, Luo Yuebei, Ji Kunqian, Zheng Jinfan, Yuan Yun, Yan Chuanzhu

Abstract excerpt

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset neuromuscular degenerative disease characterized by ptosis, dysphagia, and proximal muscle weakness. The genetic basis has been identified as an abnormal (GCN) expansion encoding the polyalanine tract in exon 1 of the polyadenylate-binding protein nuclear 1 gene (PABPN1). OPMD is worldwide distributed, but has rarely been reported in...

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Source

Identifiers

PMID: 25283883
DOI: 10.1007/s12017-014-8327-5

Genes

PABPN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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