The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy.

ABSTRACT:

Objective

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset inherited neuromuscular disorder, with progressive ptosis and dysphagia as common manifestations. To date, OPMD has rarely been reported among East Asians. The present study summarizes the phenotypic and genotypic features of Chinese patients with OPMD.

Methods

Twenty-one patients with molecularly confirmed OPMD from 9 unrelated families were identified by direct sequencing of the polyadenlyate binding protein nuclear-1 (PABPN1) gene. Immunofluorescence staining of muscle biopsies was conducted to identify the components of protein degradation pathways involved in OPMD.

Results

In our cohort, the genetically confirmed OPMD group had a mean age at onset of 50.6 ± 4.2 years (range 45-60 years). Ptosis (

SUBMITTER: Lin F 

PROVIDER: S-EPMC10014010 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature